Genome (DNA) Sequencing/Analysis

[Michael Scally MD]

Can you trust Facebook with your genetic code?
Can you trust Facebook with your genetic code? | VentureBeat | Health | by Christina Farr

 

[Michael Scally MD]

What to Consider Before Undergoing a DNA Test
A Columbia University bioethicist discusses medical and ethical issues raised by testing
What to Consider Before a DNA Test - WSJ.com

To better understand some of the issues people should consider before undergoing genetic tests, we spoke with Robert Klitzman, director of Columbia University's master's of bioethics program and the author of "Am I My Genes? Confronting Fate and Family Secrets in the Age of Genetic Testing." Here are edited excerpts from the conversation:

 

[Michael Scally MD]

23andMe's genetic tests are more misleading than helpful
The problem with the service provided by 23andMe and its competitors is that raw genetic information is very hard for a lay person to interpret.
23andMe's genetic tests are more misleading than helpful - latimes.com

 

[Michael Scally MD]

I Had My DNA Picture Taken, With Varying Results
http://www.nytimes.com/2013/12/31/s...ults.html?partner=rss&emc=rss&smid=tw-nytimes

After my tests had been sent, I braced myself for the revelations about my DNA. It took about two months to receive all the results, and when I did, the discrepancies were striking.

23andMe said my most elevated risks — about double the average — were for psoriasis and rheumatoid arthritis, with my lifetime odds of getting the diseases at 20.2 percent and 8.2 percent. But according to Genetic Testing Laboratories, my lowest risks were for — you guessed it — psoriasis (2 percent) and rheumatoid arthritis (2.6 percent).

For coronary heart disease, 23andMe and G.T.L. agreed that I had a close-to-average risk, at 26 to 29 percent, but Pathway listed my odds as “above average.”

In the case of Type 2 diabetes, inconsistencies on a semantic level masked similarities in the numbers. G.T.L. said my risk was “medium” at 10.3 percent, but 23andMe said my risk was “decreased” at 15.7 percent. In fact, both companies had calculated my odds to be roughly three-quarters of the average, but they used slightly different averages — and very different words — to interpret the numbers. In isolation, the first would have left me worried; the second, relieved.

 

[Michael Scally MD]

TruGenome Clinical Sequencing Services for Patients/Guardians
http://www.illumina.com/clinical/illumina_clinical_laboratory/igs_for_patients.ilmn

 

[Michael Scally MD]

After 23andMe, Another Personal Genetics Firm Is Charged with False Advertising
After 23andMe, Another Personal Genetics Firm Is Charged with False Advertising: Scientific American

It sounded like a miracle of science and convenience: swab your cheek and drop the saliva sample in the mailbox and GeneLink Biosciences, a personal genetics company, would analyze your DNA and send back nutritional supplements customized to your personal genome. The regimen, the company promised, was good for diabetes, heart disease, arthritis, insomnia and other ailments. The Federal Trade Commission (FTC), however, thought it sounded like false advertising and brought a lawsuit against the company, charging its claims were misleading and not founded in sound science.

In the Matter of Genelink, Inc., a corporation, also doing business as Genelink Biosciences, Inc. Genelink, Inc. | Federal Trade Commission

 

[Michael Scally MD]

I Got Your 23andMe – FDA Food Fight Links Right Here
I Got Your 23andMe – FDA Food Fight Links Right Here | David Dobbs's NEURON CULTURE

Below find my ever-growing annotated collection of online responses to the FDA’s recent shot across the bow of 23andMe, the consumer genetics company. Until today, I was adding these links to the bottom of my own first reaction to the FDA’s stern letter. (I published my broader, more studied take, How 23andMe Broke the Rules: The F.D.A. Versus Personal Genetic Testing, on Nov 27 at The New Yorker.) I’m moving the ever-growing linkroll here, and arranging them in reverse chronological order (newest responses at top), to make them more accessible. Know a good one I missed? Add the link in the comments below, or email to

david.a.dobbs@gmail.com

, with 23andMe in the subject.

 

[Michael Scally MD]

McGowan ML, Fishman JR, Settersten RA, Jr., Lambrix MA, Juengst ET. Gatekeepers or Intermediaries? The Role of Clinicians in Commercial Genomic Testing. PLoS One 2014;9(9):e108484. http://www.plosone.org/article/info:doi/10.1371/journal.pone.0108484

BACKGROUND: Many commentators on "direct-to-consumer" genetic risk information have raised concerns that giving results to individuals with insufficient knowledge and training in genomics may harm consumers, the health care system, and society.

In response, several commercial laboratories offering genomic risk profiling have shifted to more traditional "direct-to-provider" (DTP) marketing strategies, repositioning clinicians as the intended recipients of advertising of laboratory services and as gatekeepers to personal genomic information.

Increasing popularity of next generation sequencing puts a premium on ensuring that those who are charged with interpreting, translating, communicating and managing commercial genomic risk information are appropriately equipped for the job.

To shed light on their gatekeeping role, we conducted a study to assess how and why early clinical users of genomic risk assessment incorporate these tools in their clinical practices and how they interpret genomic information for their patients.

METHODS AND FINDINGS: We conducted qualitative in-depth interviews with 18 clinicians providing genomic risk assessment services to their patients in partnership with DNA Direct and Navigenics.

OUR FINDINGS SUGGEST THAT CLINICIANS LEARNED MOST OF WHAT THEY KNEW ABOUT GENOMICS DIRECTLY FROM THE COMMERCIAL LABORATORIES. CLINICIANS RELY ON THE EXPERTISE OF THE COMMERCIAL LABORATORIES WITHOUT THE ABILITY TO CRITICALLY EVALUATE THE KNOWLEDGE OR ASSESS RISKS.

CONCLUSIONS: DTP service delivery model cannot guarantee that providers will have adequate expertise or sound clinical judgment. Even if clinicians want greater genomic knowledge, the current market structure is unlikely to build the independent substantive expertise of clinicians, but rather promote its continued outsourcing.

Because commercial laboratories have the most "skin in the game" financially, genetics professionals and policymakers should scrutinize the scientific validity and clinical soundness of the process by which these laboratories interpret their findings to assess whether self-interested commercial sources are the most appropriate entities for gate-keeping genomic interpretation.

 

[Michael Scally MD]

[OA] Direct-to-Consumer Genetic Testing: The FDA's Dual Role as Safety and Health Information Regulator

A brave new world of genetic testing and personalized medicine—one in which vast amounts of patient genetic raw data can be readily produced and analyzed in light of rapid technological advances in whole genome sequencing and large-scale research and testing of the effects of genetics on human health—is upon us.

The proliferation of direct-to-consumer (DTC) genetic testing poses new regulatory challenges as genetic testing and information, once within the exclusive domain of medical institutions, has migrated into the private commercial sector.

The FDA’s traditional “protective” medical device model threatens to stifle the burgeoning industry supporting personalized medicine, and it is increasingly at odds with a patient-driven participatory health movement grounded in patient autonomy and empowerment. While the pull towards a more consumer-oriented “libertarian” or deregulatory model is strong, if taken to an extreme it would transform hitherto medical relationships into purely commercial transactions with potentially adverse health and safety consequences for patients.

The FDA is on the cusp of articulating a new flexible regulatory paradigm that maintains the FDA’s oversight role in ensuring the accuracy of “diagnostic” genetic testing and interpretation of results, while at the same time lowering regulatory barriers to market entry of “informational” genetic testing and enabling consumers to order such testing on their own initiative. At this critical juncture for regulatory design and oversight, it is important to consider not only the FDA’s role in promoting health and safety but also its complementary role in innovation policy, in particular in creating and overseeing incentives for the production and use of medical information.

Part I presents the saga of 23andMe to illustrate the shifting regulatory regime for DTC genetic testing over the past decade. 23andMe burst onto the scene in 2007 when it began marketing its flagship Personal Genome Service. At that time, 23andMe operated largely outside the purview of the FDA, against an ambiguous and uncertain regulatory landscape. This continued until 2013, when the FDA demanded 23andMe (and other DTC testing companies) cease marketing their products—the apogee of the FDA’s precautionary paternalistic regulatory response. This moment took on added salience in contrast with the company’s successful launch of DTC genetic testing with approval by the Medicines and Healthcare Products Regulatory Agency in the United Kingdom in 2014.

The FDA seemed to signal a shift in its regulatory approach with its approval of 23andMe’s DTC carrier screening test for Bloom Syndrome in February 2015. In the years since, the signal has intensified, with the FDA approving ten genetic health risk tests (including Alzheimer’s risk, Parkinson’s disease, and hereditary thrombophilia) in April 2017, the first genetic cancer health risk test (for selected variants on BRCA1/BRCA2) in March 2018, and pharmacogenetic tests for variants associated with metabolism of some therapeutic drugs in October 2018.

Part II generalizes from this case study to characterize the FDA’s emerging regulatory model as a hybrid, combining elements from the traditional “protective” medical device model and its contrasting consumer-based “libertarian” model. What is perhaps most surprising, given the Trump Administration’s overall deregulatory thrust and the conservative and libertarian attacks on the regulation of information based technologies, is that the FDA continues to assert the need for oversight, albeit pursuant to a new and evolving regulatory model.

Part III focuses on the dual roles of the FDA as safety regulator and as health information regulator by highlighting the less well-recognized (albeit traditional) role of the FDA in medical information production and then considering new challenges posed by DTC genetic testing. The FDA is well poised to play a small (albeit significant) part in the wider effort to gather and disseminate data in the health sector; its emergent hybrid regulatory model has potential implications for ensuring the creation of underlying evidence and substantiation of “big data” medical claims.

Catherine M. Sharkey, Direct-to-Consumer Genetic Testing: The FDA's Dual Role as Safety and Health Information Regulator, 68 DePaul L. Rev. (2019)
Available at: Direct-to-Consumer Genetic Testing: The FDA's Dual Role as Safety and Health Information Regulator