Twitter Roundup: FDA DTC Edition (and a new format)

Beginning this week, we are unveiling a new format for the Genomics Law Report’s regular Twitter Roundup. In addition to cataloging Dan’s @genomicslawyer tweets, we will also be offering short summaries of several key developments pulled from those tweets which, for one reason or another, did not find their way into a full-length post. Think of this as a combination between the always informative Friday Links posts at Genomes Unzipped and The Cross-Border Biotech Blog’s semi-regular feature “This Week in the Twitterverse,” which was the original inspiration for the GLR’s Twitter Roundup.

This is also a good time to introduce Genomics Law Report readers to Sharon Goswami, the Genomics Law Report’s new intern. Sharon is a 2L at New York University’s School of Law and and holds a degree in chemical engineering from Princeton University. At NYU, she is technology co-chair of the student intellectual property organization IPELS and an active student member of the William C. Conner IP Inn of Court.

This edition of the Twitter Roundup is divided into two sections.

The FDA Meets DTC. Again. Since this is the first Twitter Roundup since the FDA’s two-day public panel meeting on direct-to-consumer (DTC) genetic testing two weeks ago, we have collected all of the recent tweets on that topic in a separate section. We covered this topic in extensive detail (see posts here, here and here), but there have been plenty of others sharing their thoughts and opinions on the meeting, the FDA’s actions and the future direction of DTC genetic testing. You can find links to many of those below, as well as Dan’s live-tweeting of the meeting itself. You can also find additional coverage on Twitter under the hashtag #FDADTC and you can find all of the GLR’s DTC coverage here.

Also in the News: Public Genomics and Patent Reform. All other Tweets are collected below as usual. In addition, here are a few recent highlights our readers may have missed.

Genetic Data in the Public Domain: Genomes Unzipped Implements CC0. Raw genetic data from the Genomes Unzipped (GNZ) contributors (including Dan) are now officially available under the Creative Commons CC0 public domain option. By placing data under CC0 the GNZ contributors have waived their copyright to their genetic information, permitting the use of those data without restriction or attribution. GNZ joins other efforts – including the Personal Genome Project (which also utilizes CC0), SNPedia and Sage Bionetworks – in seeking to broaden the availability of public genomic data.

GNZ data can be browsed using the group’s Genome Browser in a manner similar to the tools available through the International HapMap Project website – looking at particular sets of data that correspond to RefSeq materials. However, unlike the HapMap data, GNZ data comes from identified individuals who have chosen to share their genomic data with the public freely and without restriction.

Update on Patent Reform Legislation. Earlier this month, the Senate passed by a 95-5 vote the America Invents Act (S.23) or, as it is more commonly known, the Patent Reform Act of 2011 (pdf). Its passage, after six years of ongoing legislative debate, was hailed by many. President Barack Obama called it “the most significant patent reform in over half a century” and David Kappos, Director of the United States Patent and Trademark Office (PTO), declared it “a win for all American innovators, of all sizes and industries.”

Among the legislation’s numerous reform proposals, the most controversial is a proposed change to a first-to-file system (from a first-to-invent system), which would award priority in most cases to the first inventor to file with the PTO. Supporters of the switch to first-to-file, including the Biotechnology Industry Organization (BIO), argue that the change would bring the United States in line with international patent practice and that, on the whole, the reform would improve the U.S. patent system, spur innovation and create jobs.

Detractors, on the other hand, argue that the current first-to-invent system protects small inventors who lack the patent prosecution of large corporations. For example, the National Venture Capital Association (NVCA), the nation’s largest trade group for early-stage investors, argued this week that the current version of the Patent Reform Act substantially disadvantages small start-up companies and could harm innovation and investment.

Over the past few weeks, as politicians, lobbyists and industry groups have lined up on both sides of the Patent Reform Act, the bill’s odds of becoming law have become far less clear than they initially appeared. With the reform act currently stalled in the House (another hearing is set for next week) it remains to be seen whether 2011 will be the year that patent reform legislation is finally passed and, if so, what portions of the Senate version will survive the legislative process intact.

Now, on to the Tweets:

Tweets from or about the FDA’s public meeting on clinical DTC genetic testing:

  • HT to @razibkhan & his post on “Genetic Paternalism & the FDA” http://bit.ly/hkJak9 for pointing me to Kari/deCODE quote #FDADTC
  • GLR Post: Closer Scrutiny Ahead for DTC Genetic Testing Claims: http://bit.ly/gxnpEn #FDADTC
  • Last wk’s House jobs forum reminder some in DC see #FDADTC regulation as inhibiting job creation: http://bit.ly/fjLXwJ cc @PathwayGenomics
  • FDA promises reg guidance for mHealth apps this yr. @mobilehealth says it’s been happening for yrs: http://bit.ly/hiB9O2 sounds like #FDADTC
  • RT @shwu: FDA’s summary of the #FDADTC panel meeting: http://1.usa.gov/hy6MPx
  • Want to share your #FDADTC thoughts? CDRH Town Hall-Orlando-on 5/5: http://1.usa.gov/i2oGgp Shuren to discuss FDA strategic priorities
  • RT @dgmacarthur: A more optimistic take on the #FDADTC meeting from @PathwayGenomics: http://cot.ag/gqGm1Z
  • More excellent coverage from #FDADTC by Turna Ray of @pgx_reporter: http://bit.ly/fhiZ1U (sub)
  • GLR Post: The FDA and DTC Genetic Testing: Setting the Record Straight: http://bit.ly/f9lWgq #FDADTC
  • Have been told House DTC investigation “bipartisan,” not over simply due to Republican control of comm. Will E&C revisit GAO report? @shwu
  • RT @shwu: Source docs for GAO restructuring: http://1.usa.gov/hPIzbt
  • RT @dgmacarthur: Official who led GAO report into DTC genomics shown to have fudged schools report: http://bit.ly/eYyqZj (via @shwu)
  • Expanded, revised #FDADTC slides for AM talk @DukeIGSP. Have posted for those interested: http://bit.ly/gRZ8mQ
  • Different take on #FDADTC: RT @GW_The_Sample: Clinical Labs Should Rejoice Over FDA Panel’s DTC Genetic-Test Ruling: http://bit.ly/hewnDH
  • DNA Dilemma: Denoument (or what @mary_carmichael would have liked to say to the #FDADTC panel): http://bit.ly/h6ckBe
  • RT @genomesunzipped People have a fundamental right to access their own genetic information – a consensus statement: http://bit.ly/eQw8ai
  • +1 RT @matthewmarkus: I enjoy analyzing lats & lons more than SNPs because my results don’t have to be routed through a geographer. #FDADTC
  • RT @mary_carmichael: “PPl should be free to make own choices. Harm from [DTC] tests ltd, as is benefit.” Altshuler: http://bo.st/ffebu1
  • RT @dgmacarthur: At @genomesunzipped, Joe Pickrell points out the benefits to research of DTC genetic testing: http://bit.ly/iecbZt #FDADTC
  • Frustration with #FDADTC spilling from twitter to blogs (#2): @razibkhan prepares to defend his genomic rights: http://bit.ly/fIc7gl
  • Frustration with #FDADTC spilling from twitter to blogs (#1): @DNAlawyer challenges FDA’s authority: http://bit.ly/fCinuI
  • Detailed coverage from Day 1 of #FDADTC from @pgx_reporter: http://bit.ly/gyJimX (subscription)
  • Need to think beyond spit kits, too. Where will WGS analysis occur? RT @MishaAngrist: Suspect lot of saliva will be headed offshore. #FDADTC
  • Speakers? Probably. Panel itself? No. RT @RDGene: Gutierrez: assures panel that provided speakers that were balanced #FDADTC
  • Add’l VC funding since. RT @RDGene: Rose Romeo @23andMe: layoffs referred to yesterday due to recruitment of experienced personnel #FDADTC
  • That begs a good q: is DTC test must be routed through clinician, must post-test follow-up-eg surveys-go through clinician as well? #FDADTC
  • RT @RDGene: Pathway: move to HP only model has made collection of lifestyle data used in risk calcs more difficult #FDADTC
  • Panel composition not well balanced. RT @shwu: All this concern for consumers-has anyone thought to ask consumers themselves? #FDADTC
  • Assume from audience, not from panel/FDA. RT @RDGene: (Round of applause when Pendergrast finished her talk #FDADTC)
  • RT @aliciaault: Pendergast said MDs on panel could not keep info from consumers, nor compel them to see MDs after test results. #FDADTC
  • RT @aliciaault: Wow, former FDA official Mary Pendergast just chewed out the panel for being paternalistic, controlling doctors. #FDADTC
  • Breaking for lunch at #FDADTC. That’s going to be it for me as off to @DukeIGSP: http://bit.ly/bkroGw. Will follow rest of mtg from afar.
  • Mansfield: we have used direct-to-consumer for simplification. Tests also called “direct access,” various other terms. #FDADTC
  • Mahowald: key idea is people are buying these tests. (Not sure I see consumer/customer distinction Mahowald is trying to make) #FDADTC
  • Mahowald: wants to make a strong pitch to change from “consumer” to “customer”; wants panel to vote on it #FDADTC (What’s the difference?)
  • Ng: need a pre-test/post-test risk calculator? Know in advance extent genetic info will modify your risk after consid other factors #FDADTC
  • House: why can’t we tell individuals that the test has limitations (not all factors incl), but allow them to manage that information #FDADTC
  • House: assume we have approved genetic test mtg FDA reg requirements. If that test is not the only factor, why not make avail #FDADTC
  • Hersch: issue imp for labeling; clarify medical risk uncertain, true risk of disease must be considered in context of other factors #FDADTC
  • D’Agostino: tests should be developed in light of existing knowledge, incl. all relevant clinical parameters (not just genetic) #FDADTC
  • Netto: inability of DTC companies to provide other types of data collection, interpretation is what will keep most tests from DTC #FDADTC
  • Netto: this is the issue that is going to bring most DTC back to prescription testing; to do this properly will need a clinician #FDADTC
  • Ransohoff: patient is not really interested in “what’s my test result”? Interested in “what’s my risk for X”? (Do consumers agree?) #FDADTC
  • D’Agostino: absolutely. Ransohoff: a great q b/c it shows distinction b/w HIV test and a genetic test – latter has add’l complexity #FDADTC
  • Q from FDA to panel: should test reports for future risks incl. warnings/info about add’l risk factors (eg env, health history) #FDADTC
  • Lipkin and others generally agree that absolute risk is easiest for consumers to understand; can have relative risk as well #FDADTC
  • Lee: descriptive categories easiest to understand (for consumers), but need to be tied to number (absolute risk) #FDADTC
  • Q from FDA to panel: what are best ways to present risk to consumers in genetic testing context? Relative, absolute, high/low risk #FDADTC
  • Lipkin: need to make avail genetic “counseling” by a qualified individual; whether that’s a GC or somebody else TBD #FDADTC
  • Tsongalis: are we confusing genetic counseling w/ clinical counseling? GC’s and MD’s have different roles #FDADTC
  • Ransohoff: making GC available may not be enough. Disingenuous to leave too much in hands of consumer. #FDADTC
  • (NB: panel discussion at this point is all hypothetical; background assumption is their rec to FDA that most/all tests not DTC #FDADTC)
  • Wyne: if we let tests go DTC w/out “routing through clinician,” should at least make a GC available #FDADTC
  • Wyne: should rec involvement of GC; the fact #s are insufficient today is not a surprise; field is growing, more GCs will be trained #FDADTC
  • Ransohoff: if a test is so complicated that a genetic counselor is required, then perhaps that is a sign the test shouldn’t be DTC #FDADTC
  • Shamburek: sub-specialists are nice for specific traits (HD), but won’t work for whole-exome, WGS; need broader genetics expertise #FDADTC
  • FDA: looking for recommendation from panel: should GCs be required, should they be available? How should they be involved? #FDADTC
  • Gallagher: agrees, but notes not enough qualified genetic counselors; also be wary of conflict of interest (GCs employed by co) #FDADTC
  • Mahowald: important that the clinician involved in genetic testing counseling be “qualified”; cos obligated to ensure this. #FDADTC
  • Panel now asked to consider appropriate role of genetic counselors in clinical DTC genetic testing #FDADTC HT @GenCounsNews @alliejanson
  • Gutierrez: but given panel is clear that most (maybe all?) tests should not be DTC, ok to move on #FDADTC
  • Gutierrez: when we put panel together, had to consider possibility of panel going either pro or con on DTC. So qs thus designed #FDADTC
  • (Panel clarifying that high-risk tests should not be available DTC; but panel reminded – by other panelists – that only making recs #FDADTC)
  • Wyne: how do you decide what is medically actionable w/ 100,000 genes on chip? Screen every one? #FDADTC
  • Gutierrez: consider whether particular disease/ symptom requires clinical intervention – requirement of going through MD #FDADTC
  • Wyne: can we allow as DTC anything that is not “medically actionable”? #FDADTC
  • Panel: will we be asked about privacy issues related to (DTC) genetic testing? Mansfield: not the place for that discussion either #FDADTC
  • Hirschhorn: how will FDA integrate regulation w/ state laws? Gutierrez: not the place for this discussion. #FDADTC
  • Shamburek: much of practice of medicine is “routed through physician”; genetic testing can follow same pathway for certain tests #FDADTC
  • Netto: needs to be sure consumers are told that a test, delivered to clinician, will wind up in medical record #FDADTC
  • Panel now discussing whether people test DTC b/c they are trying to avoid putting information in medical record #FDADTC
  • (Interesting panel so reluctant to limit access of test to targeted pop’n-want wide access-but not concerned w/ limiting in toto #FDADTC)
  • Panel seems to agree: can regulate test, marketing claims – but once test out there should be available to everyone #FDADTC
  • Panel: going to be hard to define which pop’n is target? how would FDA be able to control/limit avail of testing? #FDADTC
  • Q from FDA: Should test for rare conditions/marker be offered only to pop’n with higher prevalence of condition/marker? #FDADTC
  • Shambuurek: suggests NIH genetic testing registry as place to provide info for confirmatory testing, follow up info for patients/MDs #FDADTC
  • Panel qs: will consumer have option to order competitor’s test to confirm? How will this happen? Will result in unnecessary testing? #FDADTC
  • Ransohoff: in general, confirmatory testing imp. But FDA needs to tie to the clinical significance, risk of the test-case-by-case #FDADTC
  • Panelists: confirmatory testing very important; responsibility should be on cos to provide confirmatory testing #FDADTC
  • (Prediction: panel will favor confirmatory testing #FDADTC)
  • Q from FDA to panel: how to address false positive rate in rare disease pop’n? Should there be confirmatory testing in this situ? #FDADTC
  • Question from FDA to panel: “what are essential risk mitigation tools to providing DTC genetic tests?” #FDADTC
  • (The panel keeps coming back to “how do we know these tests actually work?” FDA keeps saying – we’re going to regulate like devices #FDADTC)
  • Gutierrez: accuracy/validity of test will be regulated by FDA. For high-risk (Class I) will be on cos to prove safety, efficacy #FDADTC
  • (Unfortunate that panel didn’t take up House’s suggestion to use consumer-demonstrated education as a form of mitigation #FDADTC)
  • Gutierrez: clarifies re: labeling. For FDA “labeling” means everything, including advertising #FDADTC
  • Ransohoff: will FDA judge the genetic test “package” or each individual test w/in that package/test panel #FDADTC
  • Ransohoff: heard good exs of mitigation from Benson’s (FDA) talk this AM. But FDA needs to consider every single SNP/claim on panel #FDADTC
  • (House w/ a really interesting suggestion. Similar to what PGP requires in the form of an entrance exam http://bit.ly/i8NOV3 #FDADTC)
  • House: can FDA req patient to pass some type of screening/educational exam prior to ordering a test DTC to address info concerns? #FDADTC
  • Hejazi: what about Humanitarian Device Exemption route for DTC? Gutierrez: doesn’t think cos limiting to small enough pop’n #FDADTC
  • Waterson/Mansfield: here we’re talking about hypothetical. If FDA *does* permit some tests DTC, what mitigation measures req? #FDADTC
  • D’Agostino: clarifying that yesterday we recommended most tests should *not* be DTC. Did this change? #FDADTC
  • Shamburek: addition to pre-test info, labeling, will need to be confirmatory testing in many cases. That risk/cost must be shared #FDADTC
  • Boughman: will depend heavily on FDA to evaluate proprietary algorithms. Davis: labeling needs to be appropriately simple #FDADTC
  • Q to panel: when might info to consumers about risks/benefits be sufficient to allow for DTC genetic testing? #FDADTC
  • Panel in general agreement re: need for truth in labeling/advertising for genetic tests – necessary but not sufficient for DTC path #FDADTC
  • For #FDADTC, clarified during break: FDA appears to be leaning toward DTC as home use kit (for DNA collection) + med device (for claims)
  • Shamburek: if truth in labeling, consumers can understand some tests / FDA can work w/ FTC to ensure this #FDADTC
  • Panel now considering second of charged questions: http://bit.ly/hvOR9Z Basically: what mitigations avail for DTC tests #FDADTC
  • Netto: another issue: DTC means results don’t necessarily wind up in medical record. (True but may be a reason some desire DTC) #FDADTC
  • (Very difficult to see how that model doesn’t bankrupt both FDA & any test sponsor. However, know FDA is looking at alternatives #FDADTC)
  • (Heard FDA – I think Philip – confirm that each new variant, claim needs to be submitted, validated, approved separately. #FDADTC)
  • (This followed by minimal discussion of how to deal w/ adding new variants, claims to massively multiplex/WGS testing #FDADTC)
  • Netto: Very difficult to separate these two. Ultimately, have to look at each test independently. #FDADTC
  • Netto: clarifying, again, that genetic tests *will* be regulated. Issue whether MDs involved in order/interp. #FDADTC
  • Ransohoff: is idea that if risk isn’t great, DTC bar gets lowered? Gutierrez: yes, but still concerned w/ truth & accuracy of claims #FDADTC
  • Gutierrez: this is q for today. What are DTC test sponsor’s responsibilities? How can FDA mitigate risk & help ppl understand test? #FDADTC
  • Ransohoff how will genetic test complexity be digested by cos/FDA before reaching indiv? If MDs can’t understand, is anything DTC? #FDADTC
  • (This is the akin to the notion of personal utility that the panel seemed not-so-interested in when discussing DTC yesterday. #FDADTC)
  • Panelist (Hersch): future risk can be clinically significant b/c it makes people to make all kinds of decisions about what they do. #FDADTC
  • Philip: some of those claims could be prevention claims – which would be clinically significant. #FDADTC
  • Mahowald: how is a test clinically significant when somebody could not become symptomatic for decades? (Or is already symptomatic?) #FDADTC
  • Philip: even in asymptomatic pop’n, need to lay out intended use. FDA looks at if in target pop’n test will give clin. sig. res. #FDADTC
  • Mahowald: What constitutes clinical use? For long-term risk assessment, w/ clinical application long in future, is that clinical? #FDADTC
  • Panelist (Mahowald): still trying to get a handle on intended use. Intended use refers to clinical indication? #FDADTC
  • Philip: We’ll look @ analytical validation for future tech (incl. WGS), but need input re: validation (analytical/clinical) of tests #FDADTC
  • FDA (Philip): we know WGS is at the door; have started looking at validating this technology. E.g. have cleared 60 mutations for CF. #FDADTC
  • Panelist (Tsongalis): how will you move from SNP/single-trait testing to massive multiplexing, whole-genome sequencing? #FDADTC
  • Gutierrez: In end, we will make public our reviews, incl. bases we found something sub equivalent (510(k) and/or safe & effective. #FDADTC
  • Gutierrez: cos will offer reg submissions; FDA will work w/ cos to shape those. Point of mtg, to help FDA do this #FDADTC
  • Gutierrez: FDA on record of saying that DTC genetic testing should be regulated. Talking w/ cos about how to comply #FDADTC
  • (A bunch of back-and-forth between panel and FDA – particularly Gutierrez. Will try to summarize for #FDADTC)
  • Seems likely for non-clinical, incl. n-c DTC RT @RDGene: Gutierrez states that some low risk genetic tests may be considered Class 1 #FDADTC
  • Gutierrez: considering how to down-regulate where possible ;have considered panels to help set correct reg (in context of LDTs) #FDADTC
  • Gutierrez: FDA regulates based on risk. Depends on intended use; try to not make extra work for ourselves, get to appropriate risk #FDADTC
  • Panel q from Hejazi (industry rep): asking how agency intends to regulate genetic tests? #FDADTC
  • Gutierrez: part of FDA’s mission, since 1976, to regulate all in vitro diagnostics for safety, efficacy. Genetic tests included. #FDADTC
  • Panel q: what prompted FDA to start regulating prescription genetic tests (IVD tests)? #FDADTC
  • (Job got in the way of #FDADTC this morning. Back in the room now & catching up thanks to tweets from @aliciaault and @RDGene)
  • GLR Post: Looking Ahead After the FDA’s DTC Meeting: http://bit.ly/hiK5te #FDADTC
  • After very long day at #FDADTC, here are my 1st thoughts: http://bit.ly/hiK5te Take-away for DTC proponents: don’t panic.
  • Quick & on point RT @dgmacarthur: My attempt to piece together the early events from day one of the #FDADTC meeting: http://bit.ly/fVNcsy
  • RT @MishaAngrist: “Making movies” My take on the FDA-23andMe-Congressional Hearings contretemps. http://bit.ly/dOyi22 #FDADTC
  • That’s the close of the #FDADTC discussion for today. Panelists reminded once against not to discuss subject matter of mtg outside of panel
  • Query: is personal utility (i.e., satisfaction) other side of anxiety? If anxiety considered shouldn’t personal utility be as well? #FDADTC
  • Boughman: avoid paternalism: distinguish between data showing anxiety vs. anticipation of anxiety #FDADTC
  • Lipkin: data on anxiety doesn’t meet criteria for clinical significance Waterson: but tests weren’t for serious traits like BRCA #FDADTC
  • Next q for panel: should anxiety be considered in assessment of safety and effectiveness? #FDADTC
  • Waterson: “sense I’m getting from committee” is to not include personal utility in considering clinical significance #FDADTC
  • Ransohoff: personal utility is important, but also very susceptible to marketing manipulation. #FDADTC
  • FDA clarifying for panel statutory definition of clinical significance. Netto: on that definition, no evid of clinical sig for DTC #FDADTC
  • (Waterson: does FDA have statutory authority to consider personal utility? Mansfield: “assume that we do.” #FDADTC)
  • Next panel question: should personal utility be incorporated in considerations of “clinically significant results”? #FDADTC
  • Important clarification from panel: is “physician” the individual’s physician, or a company physician? #FDADTC
  • House is consistent voice of disagreement; thinks patients sophisticated enough to understand when clinical consult needed #FDADTC
  • (Most panelists seem to think that, regardless of DTC ordering, results should be returned through physician #FDADTC)
  • Ng: any result w/ a high predictor a person will develop a disease, w/ clinical utility, needs to be funneled through physician #FDADTC
  • Mansfield: “routing through physician” means report results to physician *only*; MD decides whether/how to pass to patient #FDADTC
  • (Waterson offers that ordering must be by provder; two panelists quickly disagree – if reviewed by provider then ordering DTC OK #FDADTC)
  • Next question for panel: are there tests that can be ordered DTC as long as results are reviewed by clinician? #FDADTC
  • Waterson: “I don’t know if I’m getting a clear sense” on nutrigenetic testing. Concerns around testing claims, not test themselves #FDADTC
  • Mansfield: clarifies again that for all tests FDA intends to regulate to ensure analytical/clinical validity. Q is avail of DTC path #FDADTC
  • Panel is treating “nutrigenetic” as a bit of a catch-all category for testing that seems “health-related,” but maybe not clinical #FDADTC
  • Shamburek: thinks generally low risk, but still concerned about underlying analytical/clinical validity of nutrigenetic tests #FDADTC
  • Nutrigenetic discussion turning to MTHFR-folate testing, recommendations. #FDADTC (panel jumping around quite a bit right now)
  • Final part of question #1: what about nutrigenetic tests? Should those be available DTC w/out clinician guidance? #FDADTC
  • Continue to think Waterson (#FDADTC panel chair) oversimplifying range of views, opinions raised by panel. To be fair he has impossible task
  • Waterson: “getting the panel’s sense again that [PGx] should, for time being, be under MD/provider purview” #FDADTC
  • Boughman: asks for clarification from FDA re: labeling for PGx tests. Mansfield: most PGx tests described not req (but see Abacavir) #FDADTC
  • Panelist: aren’t there Hep-c, HIV tests offered DTC? Mansfield: over-the-counter, not DTC. (Promises to clarify distinction tom.) #FDADTC
  • Next category: PGx testing. Does risk of offering PGx tests DTC outweigh the benefits? #FDADTC
  • Mansfield: we’re looking for weight of risks/benefits of DTC channel, not whether the tests are safe. #FDADTC
  • Hejazi: if we req genetic testing through physician, what about ppl who do not have a physician/hc coverage? How do they get data? #FDADTC
  • Mansfield: we cannot consider cost of test in determining regulation. Panel: cost as means of data avail still part of pro/con #FDADTC
  • Tiffany House (patient rep): can’t wait to have all of the answers, b/c we will never have all of the answers #FDADTC
  • RT @DNAlawyer: FYI Shuren’s testimony in July said FDA focuses on tests “intended for use” http://1.usa.gov/dSXqfQ not possible medical use
  • (And a helpful clarification from Mansfield: what matters is *intended* use, not clinical significance. #FDADTC)
  • (What’s not clear from FDA: is it *possible* clinical use or *intended* clinical use that labels a test “clinical” for #FDADTC purposes?)
  • Panelist rightly challenges Mansfield. You cannot necessary separate out clinical from non-clinical. #FDADTC
  • Mansfield: clarifying what FDA does / does not consider clinical DTC tests (FDA not interested in non-clinical tests) #FDADTC
  • (Boughman’s arg seemed to be data is too complex for DTC delivery. Interested consumers should work through trad’l HC channels #FDADTC)
  • Joann Boughman, ASHG: do consumers have “right to know”? Not ready for DTC. Motivated ppl can advocate through traditional HC system #FDADTC
  • Panel now considering DTC w/out clinical involvement for susceptibility testing (FDA’s ex: APOE/Alzheimer’s) #FDADTC
  • (Waterson has twice declared “consensus” despite disagreement from other panelists, as well as less than half the panel weighing in #FDADTC)
  • Waterson (chair): again declares consensus on pre-symptomatic testing-through docs, not DTC. #FDADTC
  • (One theory: #FDADTC panel gravitating twd Huntington’s b/c monogenic, bright-line disease/test? Easier to analyze, ‘tho not good DTC model)
  • Panel does seem in agreement that Huntington’s testing shouldn’t be DTC (Curious if this is even avail DTC? Anyone know?) #FDADTC
  • Mary Mahowald arguing that some pre-symptomatic testing (incl. BRCA) could be offered DTC, in some circumstances #FDADTC
  • (Exs FDA provided for panel to consider for pre-symptomatic testing category: BRCA, Huntington’s #FDADTC)
  • Not sure we reached any consensus, but moving on: value of offering pre-symptomatic genetic testing DTC w/out clinician involved #FDADTC
  • (A critical point, added as a clarification, from Gutierrez. No “enforcement discretion” for genetic testing. Issue is avail of DTC #FDADTC)
  • Gutierrez: clarifies that whether FDA will regulate companies is *not* on table. Issue is whether the DTC pathway will remain open #FDADTC
  • Several panelists object to “consensus”. Led by Tiffany House, panel’s lone patient rep. Concerned some MDs won’t prescribe tests. #FDADTC
  • Waterson (chair) concludes there is a consensus that carrier testing should not be DTC for now. #FDADTC
  • (Get sense panelists are feeling rushed, pressured to make recommendation on very complex area/very quickly. AG trying to reassure #FDADTC)
  • Alberto Gutierrez, OIVD: what FDA looking for is general concepts; is it possible to move ahead w/ DTC in these categories or not? #FDADTC
  • Panelist: 5-10 years before able to make definitive determinations; caution first, then make recommendations much later #FDADTC
  • Several panelists: even w/in category of carrier testing, must go through each test one-by-one & make DTC determination-No shortcuts #FDADTC
  • First comments from panels industry rep, Shahram Hejazi (http://bit.ly/dGXLcp) – focus on clinical validity #FDADTC
  • (Last tweet was confusing: the panel is 22 ppl. Going to be tough to build consensus from such a large group. But good discussion #FDADTC)
  • Not surprisingly, appears to be no clear consensus from the panel on appropriateness of DTC carrier testing (of nearly 2 dozen ppl) #FDADTC
  • Tiffany House (patient rep on panel; Int’l Pompe Association) supports DTC availability provided there is full, complete disclosure #FDADTC
  • Panel discussion fairly wide-ranging; panel chair (John Waterson, Children’s Hospital Oakland) doing a good job trying to focus #FDADTC
  • Panel to consider each question in context of 1) carrier, 2) pre-symptomatic, 3) susceptibility, 4) PGx & 5) nutrigenetic testing #FDADTC
  • First #FDADTC question is, essentially, what are risks/benefits of offering different types of DTC genetic tests w/out clinician involvement
  • #FDADTC resumes. The panel is now going to be discussing the first of two charged questions (see: http://1.usa.gov/hvZmc9)
  • Good panel q moving us away from discussion about how to interpret genetic information to where consumers belong in the picture #FDADTC
  • Gulcher: GWAS is essentially over; we’re now into WGS. (Notes decode sequencing Icelandic population-2,500 WGS, imputation of rest) #FDADTC
  • Back-and-forth re: DTC genetic testing & risk prediction w/out family history, etc. Gulcher: add’l info valuable; panel skeptical #FDADTC
  • Gulcher of deCode response: DTC genetic test not a substitute for traditional clinical guidance; a supplemental service #FDADTC
  • Response to panel q, JG of CRG criticizing DTC companies for only providing “part of the whole”; genetic data, but not FH, env data #FDADTC
  • Unfortunately, no. Public mtg not as public as it might be. RT @bigs: .@genomicslawyer is there a video feed for #FDADTC?
  • panelist q: any lawsuits against @23andMe claiming damage? Gould: no, none. #FDADTC
  • Q re: non-paternity disclosure through DTC testing. AG: that’s part of the risks we disclose in consent to test process #FDADTC
  • AG: thinks DTC well positioned to collect long-term outcomes data; outcomes data reporting a good form of oversight #FDADTC
  • Panelist offering two anecdotes of patients who came with @23andMe data; one positive outcome, one misinterpretation. #FDADTC
  • True, generally. But clinical blurs that line RT @DNAlawyer: In commerce setting, the q is capacity to consent, not informed consent #FDADTC
  • AG of @23andMe: genetic testing can be used to confirm/contradict family history; also many customers who are adopted & have no FH #FDADTC
  • Panel: “the cheapest genetic test is a good family history”; how does this compare to DTC genetic testing #FDADTC
  • (These are important questions; clear need for stronger identity verification mechanisms in DTC genetic testing #FDADTC)
  • Panel now asking about DTC genetic testing of minors, disabled adults – others who cannot provide informed consent. #FDADTC
  • (For background, here’s the recent GLR post on this issue – surreptitious genetic testing: http://bit.ly/eAncsm #FDADTC)
  • Panel q: how can we be sure that DNA being tested was provided by person purchasing the test? Challenge of identity verification. #FDADTC
  • Panel distinguishing b/w studies testing for anxiety due to DTC (we have some) & long-term outcome DTC studies (we have none) #FDADTC
  • Panel grilling Gulcher of deCode re: whether DTC results in harms. Gulcher agrees we need more long-term data, but no harms so far. #FDADTC
  • AG: data owned by consumer; can be downloaded directly “Your data is your data” @23andMe also conducts opt-in research, internal R&D #FDADTC
  • #FDADTC panelists now have opportunity to question the last group of speakers. First q, to AG: where does DTC data go & who owns it? #FDADTC
  • AM: arguing for increase in funding, genetic testing training for nurses. (Another good point, but not sure FDA’s decision) #FDADTC
  • AM: concerned about CLIA’s lack of PT for genetic testing, different pathways for IVD kits, LDTs (imp points, but more #FDALDT than #FDADTC)
  • AM: focus on 1) role of nurses (largest HC gropu) in genetic testing, 2) who should order & 3) ANA perspective on DTC model #FDADTC
  • Now up, Ann Maradiegue, George Mason (http://bit.ly/hpA5kY), presenting on behalf of American Nurses Association #FDADTC
  • DK: major limitations of the study – no longitudinal data; pressing need to collect more / longitudinal / outcomes data #FDADTC
  • DK now providing more detail re: how GPPC evaluated DTC misunderstanding. 4% confused about high-risk, 7% confused about low-risk. #FDADTC
  • DK: limitations of survey – single point-in-time, no follow-up; no data on specific tests, only aggregate data #FDADTC
  • (Here’s a better link to the GPPC data presented at ASHG in 2010: http://bit.ly/hdoAK0 #FDADTC)
  • Now up, David Kaufman, JHU Genetics & Public Policy Center. Discussing DTC survey results from 2010 ASHG mtg: http://bit.ly/eTofcV #FDADTC
  • JG reading directly from CRG’s public record comments. You can find those here: http://bit.ly/dGvMH5 (so won’t live-tweet this one) #FDADTC
  • Now up, Jeremy Gruber, Pres of Council for Responsible for Genetics #FDADTC
  • LB: market forces will ultimately eliminate genetic tests that are not valuable; but (reasonable) oversight still needed #FDADTC
  • (LB’s def of genetic test is a single indication/intended use. Result: many tests will be dozens->hundreds->thousands of tests #FDADTC)
  • LB: high-risk tests should not be DTC; low- & moderate-risk tests should be registered w/ FDA & be conducted in a CLIA lab #FDADTC
  • (LB outlining a proposal for DTC regulation that sounds very similar to risk-based approach FDA discussed for LDTs last summer #FDADTC)
  • LB: FDA interested in protecting public health; arguing “empowering individuals to maintain good health is in the public interest” #FDADTC
  • (Note Interleukin is one of a very few publicly traded companies offering clinical DTC genetic testing – possibly the only one? #FDADTC)
  • Now up, Lewis Bender, CEO of Interleukin Genetics (co offers single-condition DTC tests) #FDADTC
  • AG: “genetic information provided DTC should be held to the same standards as genetic information provided in a clinical setting.” #FDADTC
  • AG: urging flexible, forward-looking policy & regulation. Proposing a working group for defining clinical validity #FDADTC
  • AG: regulation needs to be based on data, not on unsubstantiated fears/concerns; also need to recognize benefits of DTC #FDADTC
  • AG: we have >75K genotyped customers, and we have no evidence that there are real, demonstrable risks from DTC genetic testing #FDADTC
  • AG: we believe people have a “fundamental right” to access their own DNA. That right incl accurate, reliable genetic information #FDADTC
  • AG: we consider ourselves industry leaders w/ regard to transparency, but always room for improvement. Opp for better edu, clarity #FDADTC
  • AG: we use definitions/disclaimers – we are clear about what we do/do not test for; highlighting info comm tools #FDADTC
  • AG: highlight the likely transition from genotyping to whole-genome sequencing; will impact how we think of validity #FDADTC
  • AG: reg framework for all genetic testing cos (not just DTC) need clear standards for analytical, clinical validity #FDADTC
  • You can find AG/@23andMe slides here: ( http://bit.ly/dLnFzJ ) AG: working w/ FDA on regulation, believe we have a path to approval #FDADTC
  • Now up, Ashley Gould, GC of @23andMe #FDADTC (for those not here, the public presentations are very short, rushed)
  • JG sharing his personal encounter with genetic testing/healthcare. Information DTC, but actual treatment requires clinician #FDADTC
  • Written public comments in favor of DTC: http://1.usa.gov/eB9gMe (Mary Pendergast), http://1.usa.gov/ffgVf7 (Kevin Davies) #FDATDTC HT @shwu
  • #FDADTC resumes with public presentations. First is from Jeff Gulcher of @decodegenetics re: DTC genetics for common diseases
  • Damn good question. RT @wimufi: FDA staff not supposed to discuss topic, among themselves or with public, during lunch … Why? #FDADTC
  • (Taking a lunch break at #FDADTC. “Open public hearing” starts after lunch. See: http://1.usa.gov/evayRl)
  • (On physicians and genetic testing, take a look at this from @pgx_reporter: http://bit.ly/eBaokC – although not necessarily DTC
  • Q: what about studies examining response of physicians to genetic testing results, incl DTC? CB: not aware of anything specific #FDADTC
  • Q: how was @Navigenics chosen as the test for the Scripps study? CB: @EricTopol approached major DTC companies, Navi was interested #FDADTC
  • CB says findings are consistent w/ existing lit on impact of genetic testing (not just DTC). (That’s true, but very ltd data) #FDADTC
  • Panel pressing CB on very short (3 mo) time between testing & follow-up. CB agrees it’s a very fair point #FDADTC
  • CB: overall result of DTC genetic testing in the Scripps population? Not a large impact one way or the other #FDADTC
  • CB: sharing test results w/ physician was associated w/ some changes (e.g., exercise); sharing w/ GCs did not. But needs follow up #FDADTC
  • CB: sharing test results with healthcare providers? Only 10% sought (free) genetic counseling; >25% shared results w/ physician #FDADTC
  • CB: changes in behavior as result of screening? plenty of intent to change, but not nearly as much actual change #FDADTC
  • CB: showing data on anxiety levels resulting from testing for different sub-groups; general lack of increase in anxiety in cohort #FDADTC
  • CB: 5,000 enrolled, 3,400 viewed results, just over half were avail for follow up #FDADTC
  • CB: a second disclaimer, while showing @Navigenics screenshots, that Scripps did not evaluate the Navi product itself #FDADTC
  • (CB describing use of Navigenics test in Scripps study; keep in mind that this was the test version circa 2008 #FDADTC)
  • CB: also unlike Multiplex Initiative, Scripps study was not free to participants – prices ranged from ~$150-$500 #FDADTC
  • CB: sample was limited, not selected from within known population (as was the case with Multiplex Initiative) #FDADTC
  • CB: emphasizes that the study did not evaluate the Navigenics test that was used for SGHI (incl. clinical validity, etc. of test) #FDADTC
  • CB: lack of data on consumer response to DTC; that’s where Scripps Genomic Health Initiative (SGHI) comes in http://1.usa.gov/fDJyoy #FDADTC
  • CB: presenting data from the Scripps/NEJM DTC study. Starting with overview of “personal consumer genetics” #FDADTC
  • Final speaker of the morning: Dr. Cinammon Bloss speaking about recent Scripps/NEJM (http://bit.ly/hUIuBi) HT @EricTopol
  • CM: MI emphasized that genetics only part of the story; need to also have full family history, talk to healthcare provider #FDADTC
  • CM: MI was free, used a limited set of markers/traits, all participants were insured. #FDADTC
  • CM: BUT the Multiplex Initiative has several crucial differences from current commercial DTC genetic tests. #FDADTC
  • CM: public *should* be able to understand limits of genetic testing. (We are obliged to give them info needed to understand) #FDADTC
  • CM: recommendations from Multiplex Initiative for DTC? DTC “may be OK” if appropriate presentation of results, pros/cons & support #FDADTC
  • CM: take home messages: 3) testers can understand the limits of tests, feedback following testing #FDADTC
  • CM: take home messages: 1) lots of self-selection in pop’n 2) effective communication provides adequate support #FDADTC
  • CM: not a high level of emotions resulting from participating, but where expressed they were general positive #FDADTC
  • CM: w/ prompting, “virtually everyone” could describe whether or not they had a particular variant for a particular health condition #FDADTC
  • CM: followed up with participants to evaluate their unprompted/prompted recall of pers results from MI – great idea #FDAMTC
  • CM: low-education, male were traits that reduced participation in MI #FDADTC
  • CM: taking pains to point out that MI was not a study of the “worried well”, though did have high understanding of genetics #FDADTC
  • CM: detailed review of multiplex initiative study aims, designs #FDADTC (Background info here: http://1.usa.gov/hXOUzX)
  • CM: involved oversampling of traditionally under-represented groups in genetic testing #FDADTC
  • CM: Multiplex Initiated in light of arrival of DTC. Develop an ideal pop’n sample: eliminate barriers, ensure informed consent #FDADTC
  • Now up: Colleen McBride, NHGRI, talking about Multiplex Initiative #FDADTC
  • (I’m speaking next at #FDADTC so won’t be Tweeting – I can multi-task, but not quite that well. My slides are here: http://bit.ly/fcPUyI)
  • NW ultimately making standard arg. for involvement of healthcare providers in DTC. But her exs, evidence leave much to be desired #FDADTC
  • True. RT @aliciaault: Wexler did start out describing her biases on testing: family hist of HD & basic bias against industry. #FDADTC
  • Panel member pressing NW on her paternalistic stance – denying individuals access to genetic information. #FDADTC
  • NW: people don’t understand genetic testing; we need to pull back on all of this. No more “spit parties” #FDADTC (The rhetoric continues)
  • (Respect NW’s contributions to science but cannot credit her understanding or analysis of where DTC is or what it’s motivations are #FDADTC)
  • NW accuses DTC of “raping the human genome project” (did I possibly hear that correctly? can anyone confirm?) #FDADTC
  • NW: DTC companies should be closed and DTC should be eliminated. DTC preys on our worst aspects, prey on snobbery & the rich #FDADTC
  • (For ref: MyGeneProfile is a Singapore-based company & a pure scam. #FDADTC needs to address this, but hardly representative of industry)
  • NW now moving on to GAO report on DTC genetic testing #FDADTC
  • (Disappointed that NW drawing all of her conclusion about state, risks of DTC from MyGeneProfile #FDADTC)
  • (My opinion: irresponsible of NW. Not a US company, not representative of DTC. Not even sure MyGeneProfile is an actual company. #FDADTC)
  • NW is now showing MyGeneProfile (complete genetic scam, see @dgmacarthur: http://bit.ly/f58AYH) as representative of risks of DTC #FDADTC
  • NW drawing direct line b/w exp. of friend w/ HD who committed suicide to DTC tests on shelves of Wal-Mart. I can’t make that jump #FDADTC
  • NW speaking broadly about HD testing concerns. Share many, but agree w/ @lindaavey that not best model w/ which to debate #FDADTC oversight
  • That doesn’t surprise me – I don’t know of any. RT @DNAlawyer: @genomicslawyer No huntington DTC test at of 5/2010: http://bit.ly/dSSAIf
  • (Not aware of any providers offering testing for Huntington’s DTC. #FDADTC)
  • NW: describing guidelines for Huntington’s Disease testing, including privacy & informed consent requirements. #FDADTC
  • (RT @mary_carmichael: As #FDADTC gets hashed out, @virginiahughes takes a thoughtful tour of her @23andMe results: http://bit.ly/hqTwxM)
  • NW focusing on Huntington’s disease gene discovery, a process in which she was instrumental. #FDADTC
  • NW now describing her involvement in, history of the Hereditary Disease Foundation: http://bit.ly/gBF15R #FDADTC
  • NW speaking personally, with own biases/fears. But believes those are shared by everyone with DNA. (Not sure I agree. At all.) #FDADTC
  • Now up at #FDADTC, Dr. Nancy Wexler, Columbia: “Toxic Information: Handle With Care”
  • (GLR post from 1 year ago, on why markers of DTC industry failure aren’t really: http://bit.ly/dtqTes Analysis hasn’t changed since #FDADTC)
  • SH: thinks the fact we have no data is indicative of lack of enforcement – regulation improves data-gathering #FDADTC
  • Q for SH: do we know anything about volume of cross-border activity for DTC genetic testing? SH: no. (I’d give same answer) #FDADTC
  • Q for SH: why does UK have such a light touch on DTC? SH: historical (e.g., eugenics) & cultural factors are stronger elsewhere #FDADTC
  • Questions from panel to SH focusing on appropriateness of clinical utility as a standard for DTC genetic testing regulation #FDADTC
  • SH’s closing thought: “let’s try to avoid disaster” (although not clear what, exactly, the disaster to be averted is) #FDADTC
  • (I disagree fairly strongly w/ SH on that point. @23andMe continues to raise money, deCodes bankruptcy not tied to DTC, etc. #FDADTC)
  • SH: arguing DTC doesn’t work by pointing to Sciona struggles, @23andMe layoffs & @decodegenetics bankruptcy. #FDADTC
  • SH: thinks enforcement will grow if DTC market grows, but SH skeptical that DTC will stick. Thinks business model entirely unproven #FDADTC
  • SH’s conclusions: # of DTC companies, countries regulating DTC both increasing. But rulemaking, guidance does not equal enforcement #FDADTC
  • SH: like SACGHS, HGC now being wound up. UK may be unique in world in diminishing its oversight of DTC over the past 15 years #FDADTC
  • SH: key issue of divergence: tests need to be delivered w/ clinical supervision? (Agree: the most contentious issue in US too) #FDADTC
  • SH: main reason HGC went with guiding principles as opposed to (binding) code of practice? Nobody to enforce code of practice #FDADTC
  • SH: the revised HGC recommendations were designed with an int’l market in mind, along with participation from DTC industry #FDADTC
  • HGC updated its report, recommendations last year w/ “A Common Framework of Principles for DTC genetic testing http://bit.ly/ePPe6j #FDADTC
  • SH describing story of Sciona, HGC public consultation on DTC genetic testing (see: http://bit.ly/eOVKf7) #FDADTC HT @eurogene @RDGene
  • SH shifting now to soft law approaches: voluntary codes of practices, guidelines, etc. UK has engaged this route frequently #FDADTC
  • (Australia’s model is what FDA’s LDT guidance could very well resemble see: http://bit.ly/b8Fr3j #FDADTC)
  • SH: TGA participates in standard setting, can intervene if there is a concern. #FDADTC
  • SH: AUS classed LDTs as med devices; high-risk reviewed by TGA (FDA equiv); med- & low-risk registered w/ TGA, eval by industry. #FDADTC
  • SH now looking at Australia’s new IVD regulatory framework; restricts certain types of IVD self-testing (incl. genetic traits) #FDADTC
  • SH: European Commission has suggested there might need to be special measures for DTC genetic testing #FDADTC
  • SH’s overview of EU device regulations – the current ones aren’t very good; but European Commission attempting to strengthen #FDADTC
  • SH: if we want to stop “bad tests getting on the market” we need to look to IVD regulations. Comparing EU, AUS, US #FDADTC
  • SH: does not know of any enforcement activity of genetic testing regs in any of these countries, apart from South Korea #FDADTC
  • SH: common themes: restrictions on who can test, standards on genetic testing, some tests more imp than others (e.g., screening) #FDADTC
  • SH: South Korea apparently has a blanket ban on DTC genetic testing #FDALDT
  • (Incidentally, I agree with SH: sometimes surprisingly difficult to get info on int’l regulatory developments, esp outside of EU #FDADTC)
  • SH now flitting out of Europe & over to South Korea (although caveats that he has not confirmed the data); SK banning some tests #FDADTC
  • SH: most recent piece of legislation is Germany’s genetic diagnosis act. (For detailed GLR coverage, see here: http://bit.ly/gXMgkg) #FDADTC
  • (Most of the legislation/regulation SH is discussing also share common themes of informed consent, clinician involvement, bioethics #FDADTC)
  • (Note that most of the legislation SH is discussing is quite old, esp by DTC timelines – e.g., Belgium’s dates from ’87 #FDADTC)
  • SH now shifting to nat’l legislation efforts on genetic testing (mostly in Europe) – whirlwind tour #FDADTC
  • SH: Current status of CoE protocol? So far only 5 member states have signed protocol, & only 1 has ratified. So not yet implemented #FDADTC
  • SH: CoE generally permits genetic testing only w/ direct clinical supervision; some exceptions, but not if clear clinical importance #FDADTC
  • SH’s next stop: Council of Europe Additional Protocol on Genetic Testing (2008, see http://bit.ly/i8ReIE) #FDADTC
  • SH: OECD now discussing how to revise guidelines. One q: is WGS opening up new issues that require revision? (My answer: absolutely) #FDADTC
  • SH: int’l treaties standards developed. Starting w/ proposal from OECD (see: http://bit.ly/fS7I27) & supplement implementation #FDADTC
  • SH tackling recent developments from all over the world – Germany, UK, Japan, Aus. (Ambitious proj, given diversity of approaches) #FDADTC
  • SH: what are our options? Do nothing; ban it; or set some rules (feat. a slide with 10 commandments. FDA guidance from on high?) #FDADTC
  • SH: outlining gaps in regulations, including devices, labs. Many countries don’t have anything as comprehensive as CLIA. #FDADTC
  • SH: where does DTC fit in existing regulatory landscape: med devices (FDA), lab devices (CLIA), codes of practice (soft law) #FDADTC
  • SH: DTC has become focal point for regulation of genetic testing – a debate that dates to at least the 90s (IOM report) #FDADTC
  • Now up at #FDADTC, Dr. Stuart Hogarth, Kings College on “Regulating consumer genetics – an overview of global trends”
  • DTC company @23andMe has posted its presentation materials in advance of #FDADTC meeting: http://bit.ly/dLnFzJ
  • TM: “I’m not that familiar with the type of claims these [DTC] companies are making” #FDADTC
  • Thankfully, #FDADTC panel now pressing TM for how DTC is using this GWAS data, whether DTC cos’ claims match the data
  • (TM finishes w/, by my count, a single tangential ref to DTC. Think a missed opportunity to tie NHGRI’s scientific expertise to #FDADTC)
  • TM: several limitations of GWAS-identified markers for risk assessment – non-determinitive, don’t explain full variability, etc. #FDADTC
  • TM now moving on to “the case of the missing heritability” at #FDADTC, with nice HT to @bmahersciwriter
  • (TM’s comments on GWAS/SNP discovery also yet to address relationship to DTC – what is being tested, quality of testing, etc. #FDADTC)
  • (TM’s talk on history/state of GWAS quite comprehensive. Let’s hope she turns forward to WGS tech, implications before time is up #FDADTC)
  • “Cue Music: stuck in a (regulatory) moment. The FDA & oversight of DTC genetic tests” http://bit.ly/eCKjvv @DNAlawyer’s thoughts on #FDADTC
  • TM now discussing HapMap. Diving deep into underlying science (although slides on HapMap, seq cost, GWAS associations 4 years old) #FDADTC
  • TM: providing the panel with a high-level overview of GWAS methodology, progress over past 5-10 years. (Reflects diversity of #FDADTC panel)
  • Now up at #FDADTC, Teri Manolio from NHGRI. Starts w/ scientific basis – relationship between GWAS and DTC
  • Panel q: what is a “medical claim”? LM: any claim that arises from a device deemed to be a medical device under FDA regs #FDADTC
  • (So does that mean LM/FDA have determined that anything DTC is inherently a medical device & subject to related regulations? #FDADTC)
  • LM: we have “already determined” that “enforcement discretion” is not an appropriate model for DTC testing #FDADTC
  • LM: very difficult for FDA to track the DTC market; continually having to scan the web & other sources to determine who is out there #FDADTC
  • Panel q for LM: how “massive” is this DTC problem, really? LM: were far more companies; believe a number have left DTC model behind #FDADTC
  • (Overall, LM’s talk comprehensive background, well-balanced. FDA hitting right notes at opening of #FDADTC)
  • Panel q to LM: is the consumer the person ordering the test, or the person whose DNA is tested? LM: expects them to be the same… #FDADTC
  • (You can find full text of 3 questions to #FDADTC panel on pg 4/6 here: http://1.usa.gov/h6WYm3)
  • LM: 3 primary qs to panel: risks/benefits of (1) clinical DTC w/out MD, (2) possible misunderstanding, (3) scientific standards #FDADTC
  • LM: so why is FDA here? To here discussion/perspectives from panel, public. Wants discussion of “difficult issues” in #FDADTC
  • LM: FDA must do this while keeping up with technology, promoting innovation #FDADTC
  • LM: regardless of who orders a test, it is essential that FDA determine medical claims are correct & valid #FDADTC
  • LM: WGS now “widely available” – WGS platforms’ performance not well understood; none are cleared by FDA #FDADTC [though cos working on it]
  • LM providing overview of tests avail DTC, incl. clinical/non-clinical distinction. FDA focused on tests meeting def of med device #FDADTC
  • (Good to see Mansfield acknowledge inevitability of WGS, changes in DTC models/marketplace. #FDADTC)
  • LM: number of DTC companies has “likely narrowed” due to FDA’s oversight; but technologies (inc. WGS) are changing the field #FDADTC
  • LM: working w/ DTC companies to comply with medical device regulations; has been a challenge for both FDA & companies #FDADTC
  • LM: “There is a place for DTC genetic testing, but appropriate oversight should apply to [protect individuals]” #FDADTC
  • LM: today, DTC remains as business model. Aware of various public positions pro/con on DTC. #FDADTC
  • LM: on 2010 GAO report – “FDA briefed generally, not aware of specific findings in advance of House hearing” #FDADTC http://bit.ly/bfF7we
  • LM: 2010, FDA sends numerous more “letters to industry” – many companies exit DTC market, others develop compliance plans w/ FDA #FDADTC
  • LM: 2010, FDA learns of Pathway/Walgreens (http://bit.ly/uZQa9), sends “letter to industry” & meets w/ Pathway. Concl: DTC = risks #FDADTC
  • LM: in 2009, FDA began sending “it has come to our attention letters” and meeting with DTC companies – cos claimed LDT status #FDADTC
  • (For a fuller overview of the background Mansfield is providing, see this post http://bit.ly/hfZquo #FDADTC)
  • LM: 2007, we moved beyond nutrigenetic; CLIA issues; state (NY/CA) enforcement #FDADTC
  • LM: starting off the history of DTC, all the way back to…2006. (We haven’t been at this all that long) #FDADTC
  • Mansfield: def of DTC: tests ordered directly by individual, w/out prescription; results received by individual without help of MD #FDADTC
  • Now up, Dr. Liz Mansfield: “Why are we here? History and current landscape of DTC genetic tests” #FDADTC
  • (Unfortunately, there is no live webcast at #FDADTC)
  • Kicking off #FDADTC mtg here in DC: http://bit.ly/iiJIC0 Right now, reviewing exec summary: http://1.usa.gov/h6WYm3
  • Also, for those who are interested, I’ve posted my #FDADTC slides in advance of tomorrow’s talk: http://bit.ly/fcPUyI
  • GLR Post: Charting a Path for DTC Oversight: http://bit.ly/iiJIC0 My thoughts in advance of the #FDADTC meeting
  • RT @dgmacarthur: I adopt a tone of cautious optimism in advance of tomorrow’s FDA meeting on DTC genetics: http://bit.ly/fSkRYl
  • Meeting materials for tomorrow’s #FDADTC mtg here: http://1.usa.gov/i24b7F If anybody knows of a webcast link, please lmk.

Regular tweets from the intersection of genomics, personalized medicine and the law:

  • Interesting. Dx version would be welcome: MT @BiotechPatent: Bipartisan Congressional #MedTech Caucus launches website: http://bit.ly/fbUeil
  • RT @matthewherper: A Cancer Patient’s Quest Hits DNA Pay Dirt — or why Kathy Giusty and 38 genomes are so important. http://ow.ly/4lEuE
  • RT @LifeSciVC: Not all about Tech; >200 new healthcare, wellness & life sci startups on AngelList. Pretty cool. @naval http://ow.ly/4l3wW
  • RT @pgx_reporter: Celera Will Add to Quest’s MDx Capabilities; But Reimbursement Questions Cloud Revenue Contribution: http://bit.ly/gxJOOZ
  • Part 2 of @Xconomy guest post on who will pay for drug development: http://bit.ly/gpvD3j
  • RT @genomesunzipped: How does adding extra genetic information change our disease risk? @anderson_carl finds out: http://bit.ly/g6X4C3
  • RT @ldtimmerman: SV Life Sciences, flush w/new $500m fund, on the hazard of having lots of dough when VC is struggling. http://bit.ly/ekMwbu
  • Venture capitalists (via NVCA) concerned about impact of patent reform on inventors, start-ups: http://bit.ly/ed4cqA Cont. to wait on House.
  • GLR Post: Considering the Impact of Yet Another Proposal for Genetic Legislation http://bit.ly/egqzi8
  • RT @InSequence: BGI’s Sequencing Projects Tackle Genetic Roots of Cancer and Disease, Reference Organism Assembly: http://bit.ly/fatypL
  • What’s next for CardioDx? CAD test adoption (here & in BRIC countries) + more/predictive tests. But no IPO: http://bit.ly/hoXNCs
  • AMA lashes out against DTC genetic testing: a “weapon” & the “unauthorized practice of medicine”: http://bit.ly/dGeMJk HT @5amsolutions
  • RT @GenomeInstitute: @GenomeInstitute’s Dr. Elaine Mardis interviewed about latest breast cancer sequencing work http://bit.ly/hwK5Rr
  • Sequence Analysis 101: A newbie’s guide to crunching next-gen seq data: http://bit.ly/gVX6CL feat @dgmacarthur HT @gw_dailyscan
  • Who’s Going to Pay for Future Drug Development (Part 1): http://bit.ly/fGV0Q8 in @Xconomy
  • RT @dgmacarthur: Cool – @23andMe has used its participant data to find novel genetic associations with Parkinson’s: http://bit.ly/fvYENB
  • Alnylam, UMass, and Others Settle RNAi Patent Litigation: http://bit.ly/dRjafg (from 3/15)
  • Missed @Xconomy interview by @BVBigelow w/ social networking researcher James Fowler, who is working w/ @23andMe: http://bit.ly/esnwEV
  • Thoughts from CardioDx, Genomic Health & others on challenges of commercializing genomic diagnostics (from 3/16): http://bit.ly/e1r6F6
  • A reminder from @DNAlawyer that not all gov’t regulation (incl. #FDADTC) is necessarily authorized or unchallengeable: http://bit.ly/hBPzO9
  • RT @GenomeWeb_News: AstraZeneca, @Sagebio Partner on Cancer Therapeutic Development: http://bit.ly/dIrFdK
  • Last wk’s House jobs forum reminder some in DC see #FDADTC regulation as inhibiting job creation: http://bit.ly/fjLXwJ cc @PathwayGenomics
  • Report from @PHGFoundation: Fair access to genetics needed in mainstream medical services http://bit.ly/dSSD7k
  • RT @drjonboyg: get this job & be my boss. MT @girlscientist: Job open: NHGRI, Chief Policy & Program Analysis Branch http://is.gd/FBHOED
  • Guest Post by @Navigenics GC: “Breast Cancer Counseling: Personalizing Med. Beyond BRCA Testing” http://tinyurl.com/65tct3o cc @alliejanson
  • A new DTC entrant: RT @Lumigenix: Until 3/31 our Introductory kit is only $99 USD (normally $279). http://bit.ly/fVU7UK
  • RT @genomesunzipped: Analysing your own genome, bloggers respond to the FDA and more reporting on bogus GWAS results http://bit.ly/fP4FtK
  • RT @InSequence: BioNanomatrix Pockets $23.3M in Series B Funding http://bit.ly/fO9jHb
  • BTW, that may be 1st attempt I’ve seen at valuing a personal genome. $20/day + 10% of earnings for an @kennethreitz clone
  • Another github genome, this time with an extremely forward-thinking (& ambitious) license provision: http://bit.ly/i5h6Ev
  • Looking forward to the first Science Online NYC event next month: http://bit.ly/eAr3tX cc @S_O_NYC #sonyc
  • More $ for OCR necessary? 250 breaches affecting >500 ppl (http://1.usa.gov/bxVDO3) & >10K total breaches say yes.
  • OCR requests an additional $5.6M for HIPAA/HITECH enforcement: http://bit.ly/eMBBFp
  • RT @PersonalizedMed: Take home msg from HUGO 2011 Dubai: global community in #genomicmedicine engaged , growing, active, entrepreneurial
  • An admittedly cynical take on angel investing RT @JCainHart: The Top 12 Lies Angels Tell | http://read.bi/fTzZHM
  • A first look at HBM’s survey of ’10 Biotech M&A trends by @LifeSciVC: http://bit.ly/eEw5ie More deals, smaller buyers, worrying multiples
  • A look at Europe’s complicated regulatory environment for genetic testing in EJHG: http://bit.ly/gT8AEI congrats to lead author @eurogene
  • Good to see BGI (@BGI_Events) taking on ethical challenges of WGS & personal genomics: http://bit.ly/erSNKs cc @PGorg
  • RT @GenomeWeb_News: JGI Taking Proposals for Sequencing Projects: http://bit.ly/hU2zfv
  • RT @GenomeWeb_News: Ambry Genetics, LABS Partner on Genetic Testing: http://bit.ly/hniLM5
  • “The Structure of the MedTech Innovation Ecosystem” http://bit.ly/eqogIh Interesting slidedeck by Josh Makower HT @dgmacarthur
  • Obama to push for privacy bill of rights (http://on.wsj.com/fG3THT). Will it encompass genetic privacy rights (http://bit.ly/i9fIT5)?
  • Uninformed Consent: Tech Solutions for Faulty Permissions in Health Care http://bit.ly/gloWak in @sciam HT @jasonbobe
  • GLR Post: Is the Genetics Rights Movement Picking Up Steam? http://bit.ly/i9fIT5 (review of VT legislative proposal)
  • RT @CAPDCAdvocacy: AMA releases proposed molecular pathology codes for stakeholder review: http://tinyurl.com/45uw32w
  • Including a “buy” for $MYGN: RT @GenomeWeb_News: Investment Firm Jefferies resumes coverage on 8 MDx & other firms: http://bit.ly/gzi0JD
  • Having struck out w/ Bayh-Dole (http://bit.ly/ge6VUZ), Fabry patients file class action suit against $GENZ, Mt. Sinai: http://bit.ly/ghc6bE
  • Agreed! A great day & very timely discussion. RT @PersonalizedMed: @genomicslawyer thanks for a great day today @DukeIGSP
  • RT @girlscientist: Genetics Society of America launches “fully open access journal, with data availability” http://www.g3journal.org
  • Wonder who’s buying at $9,500. RT @shwu: “Consumers can’t decode genomics-based tests on their own” says survey: http://bit.ly/fm9LNO
  • RT @GENbio: North Carolina & MD trying to create new funds designed to assist life science start-ups. http://bit.ly/fcnXrV cc @JCainHart
  • RT @LifeSciVC: More on $50M Slate drug cost to NDA “Choose your Own Numbers: Crowdsourcing Cost-to-Produce a new Drug?” http://bit.ly/hMya4G
  • $GNOM Expects to Ship >500 Genomes in Q1, Plans to Break $5K Genome Price by Year-End: http://bit.ly/fsTnFc via @InSequence
  • RT @EdwardWinstead: Making Genome Sequencing Part of Clinical Care http://bit.ly/eBFFtL by @emilysinger via @EricTopol
  • RT @ldtimmerman: Gates Foundation makes 1st direct equity investment in a biotech co, Liquidia Technologies. http://bit.ly/fwyfIq
  • RT @David_Dobbs: Buckle up. RT @dgmacarthur: Watching James Watson present to packed house … in Francis Crick auditorium @sangerinstitute.
  • RT @pgx_reporter: Goldman Analyst: $MYGN’s Stock Buyback Suggests Slowing Organic Growth: http://bit.ly/fqXDnR
  • RT @dgmacarthur: Five more @23andMe data-sets in the public domain: @manuelcorpas and family follow @genomesunzipped: http://nblo.gs/f6YjM
  • RT @genomesunzipped: Our raw genetic data are now officially in the public domain, under Creative Commons CC0: http://bit.ly/gWDiUR
  • RT @jasonbobe: GET 2011 @ UPenn, speakers incl Goldstein (Duke), Pe’er (Columbia), Drmanac (CGI) & Church (Harvard): www.getconference.org
  • Dell survey: Patients like idea of health IT & digital data (81%), even as concerned about privacy (69%) http://bit.ly/fNjoI2 HT @cwhogg
  • Sad but true: “best-case scenario” RT @NatureNews Modest cuts for science in Senate compromise bill http://goo.gl/fb/BXkxN
  • TED not on today’s agenda? Go see @MishaAngrist at BIL instead: http://on.wsj.com/gQFI0y
  • RT @genomesunzipped: Inbreeding around the world, gene-environment interactions and sales of genetic tests: http://bit.ly/dYp6y6
  • RT @FierceBiotech: Careers in biotech ranked as the No. 1 happiest job in America. http://on.msnbc.com/hJpa98
  • RT @GenomeWeb_News: Europe, EMBL Pledge Continued Partnership: http://bit.ly/g8csIF
  • RT @MattMealiffeMD: #FoGMIV: increasing # of studies show N=1 seq of individual pt’s tumors yield info w/ at least quasi-clinical importance
  • Fighting Gravity in Venture-Backed Biotech Returns: http://bit.ly/g8G7Ds by @LifeSciVC
  • RT @bigs: RT @raymondmccauley: Audience doc: Why “patients”, “consumers”, “organizers”? We’re all just people, looking at ourselves. #FoGM11
  • RT @GenomeWeb_News: Patent Reform on Cusp of Senate Passage: http://bit.ly/hgLX5I
  • RT @InSequence: Affymetrix Dismisses Lawsuit against PacBio, Former Employees: http://bit.ly/g6r78H