Wednesday, December 11, 2013

Bad research vs. the truths behind the 23andMe stories

By Katherine Borges
Director, International Society of Genetic Genealogy

You'd have to be living in a cave to not know about the media storm that's befallen 23andMe over the past several weeks. With one damning media story cranked out after another, its hard to imagine the old adage about "There's no such thing as bad publicity" proving true for 23andMe. Its like the old game of telephone gone horribly awry. In one example, the FDA desist letter was picked up by Swedish and Finnish media outlets with the claim that the 23andMe test will, "...lead women [to] unnecessarily operates off their chest after notification that they have an increased risk of breast cancer."
Another person asked if lungs were "taken away if there was the risk of lung cancer?"

While parts of the stories may be subject to being "lost in translation" overseas, the situation with how much research journalists are conducting on their stories isn't any better in the U.S. The article, "Would you like to share your DNA code today?" by Barbara Shelly of the Kansas City Star is a prime example. Ms. Shelly reused an Associated Press quote from the attorney for a class action law suit filed against 23andMe last week. But if she had thoroughly researched her story instead of just jumping on the latest witchhunt bandwagon, then she would have been the first to conduct REAL journalism by fleshing out the truth in the stories.

For instance, would Ms. Shelly, or even the Associated Press for that matter, still have used the quote from the plaintiff's attorney if they knew that the plaintiff was the wife of one of her attorney's law firm partners?  Or that the plaintiff ordered her test in September and received her results on November 19, just three days before the FDA letter went public? Or that the plaintiff's husband's law firm specializes in class action law suits? Knowing these facts, how much weight does the attorney's quote carry? How much time did the attorney put into researching 23andMe before making the assertion that their database building is "thinly disguised". Frankly, its not disguised at all, the company has been quite open about building a large database.  Would Ms. Shelly and AP still have used the quote if they knew all of this?

Another aspect that Ms. Shelly took the easy way out on is that she makes the assumption that, "...genetic testing company selling one's DNA code the way an online retailer sells email addresses..." and labeled it "creepy."  If Ms. Shelly had done her homework by either ordering a test herself or interviewing someone who had tested, then she'd know that the people who order the test agree to a consent form that rivals iTunes' consent form. She would have also learned that 23andMe customers knowingly fill out health questionnaires for the purpose of advancing medical research via using large datasets of DNA combined with health information. That is, afterall, why the company was founded. Furthermore, adequate research of 23andMe's website would have also revealed that unlike retailers who sell personal and identifying information, 23andMe's consent form explicitly states no information is shared without a person's consent and the information is aggregated and stripped of identifying info.

Ms. Shelly further demonstrates her ignorance of the genetics field with scaremongering statements like, "What if a potential employer learns someone has a high risk of an expensive disease, such as diabetes?" If she knew anything of the field or once again, had researched the topic before making such an outrageous remark, she would know that thanks to a federal law known as the Genetic Information and Non-Discrimination Act signed into law in 2008, that it would be illegal for an employer to use such genetic information against an employee.

As for the rest of her article, at least Ms. Shelly acknowledges that the medical field is already utilizing personalized genetic information. But then she shows her lack of research skills yet again by not citing the contributions that 23andMe has made. She casts those aside with a flippant, "There is a vast gulf between the quickie commercialized service offered by 23andMe and the groundbreaking medicine practiced by Kingsmore." 

Ms. Shelly, you owe 23andMe an apology and a retraction. In the meantime, perhaps the public can "weed out the bad" reporting and the FDA will soon allow 23andMe's "good work to thrive".

Wednesday, September 28, 2011

Glenn Hammonds' speech at the San Francisco FDA Town Hall Meeting

Glenn Hammonds was the only DTC speaker at the FDA Town Hall meeting in San Francisco, California on 22 September 2011. Here is his speech published in its entirety:

Good morning everyone. My name is Glenn Hammonds, I'm a native of Nashville, Tennessee, but I've lived in the San Francisco Bay Area since 1979, and in Oakland since 1987. It is a pleasure to be back in South San Francisco where I spent many years as a scientist at Genentech and Exelixis.


I'd like to thank CDRH Director Shuren and his staff for arranging this meeting, and for giving me the opportunity to speak on the subject of Direct To Consumer Genomics.

I am concerned, as a consumer, as a scientist, and as a citizen, at the prospect of elimination of direct to consumer testing.

As a satisfied customer of 23andMe, I would be appalled to lose access to their services, which I have enjoyed for several years, and which I have recommended to friends and family. I've also used FTDNA, and am satisfied with their testing, although I don't understand why they have to remove perfectly good data from their reports before releasing it to me.

As a scientist who's spent a good deal of time in biotech and pharma, I think it likely that restricting access to these inexpensive and powerful tests could well slow discovery and innovation. I was impressed by the list given by Don Vorhaus of the Genomic Law Report web site detailing why this might happen, including the following factors.

Reduced access to capital.
Fewer new products
Fewer entrants into the field
Increased risk of Litigation.
Reduced access to technology.
Encouraging overseas development.

As you know, students in graduate and medical school today are using DTC genomic data sets, often their own, to learn genomics in a way profoundly different from any previous generation. Some of this work is already available on line, for example the Integrome project from Stanford. Genomics will continue to transform medicine and biology for a long time. These students are the vanguard of a fully genomic aware cadre of scientists and physicians. Don't stunt their growth!

Finally, as a citizen of a nation that values personal freedom and responsibility, I know that a person is not a just a patient, a consumer of medical devices, drugs, and advice. A person's genome is the starting point for all that a person is, and contains information about the whole person. Restricting access to information and advice about that most important part of personhood itself is abhorrent, and cannot stand.

I'd like to close with a selection of opinions from other customers of 23andMe, sent to me after I made a public appeal through the web site.

"It is important that you express the unhappiness - anger if you will - that has arisen among many who feel that any attempt to regulate DTC is unnecessary and unwelcome."

"In my personal experience, I took my 23andMe results to my physician and after I explained them to him he agreed to add them to my medical record."

"The medical profession and individual citizens need education, as much education as we can can help them get, about the coming era of personal genomic medicine. Restricting the information that can be learned from DNA testing from individual consumers does not promote better medical care."

"I don't find the health and trait information on this site compelling and am much more interested in genealogy and ancestry, but I can't support the restriction of information to any user whatever their interest."

"I do NOT want the government to filter my access to information about my own genome."

"The only other way I want the government involved is to ensure that insurance companies cannot use such information to deny me coverage, and that employers can't use it to not hire me"

Monday, September 28, 2009

ANALYSIS - "Direct-to-consumer genetic tests: beyond medical regulation?" D. Magnus, et al.

A "Commentary" paper that leads off with an abstract stating DTC test analysis is "uncertain because of the lack of information about environmental and other factors, and because for the vast majority of genetic loci the associations with disease are weak". This assessment is based on only one paper reference.

The introduction of the paper provides a brief description of DTC tests and asks if tests should be regulated. The Discussion section covers the current federal and state regulatory framework for genetic tests already in place including the 2008 California Dept. of Public Health's "cease and desist" letters.

The authors' opinion that the DTC companies arguments for offering tests directly to the public are "weak to indefensible" citing that while "People may indeed have a right to their genetic information, but it does not follow that we should not regulate the process to make sure that information is appropriately provided." They summarize that the second argument for public DTC is that the tests are "not really medical" and the third argument is "that patients deserve direct access to their health information without a physician intermediary." The authors state that "A physician working for a company selling tests is clearly not well situated to look after a patient's best interest".

The authors stretch to support this argument with, "To make matters more confusing, personal genomics could predict risks of very weak genetic associations while leaving out powerful predictive mutations" like in a rare form of breast cancer. But then the straw-man is revealed in their caveat, "But these are not tests offered through personal genomics services."

The authors then postulate that "California and New York states are right to create standards to protect their citizens from the risks of medical testing" which first of all, California did not create a "standard"; the California Dept. of Public Health arbitrarily sent "cease and desist" letters based on anonymous "letters of complaint". New York's law dates from 1996, and can hardly be suggested as standards created for the DTC-era since the law pre-dates it.

The authors acknowledge that physicians will need training. What the authors do not mention is what kind of impact such training will have upon the industry such as: will all physicians require training? Who will pay for the training? How long will such training take and will the DTC companies still be allowed to sell tests during this time frame? These and many more questions need answering before any legislation or standards are imposed.

Tuesday, September 8, 2009

UK - The Human Genetics Commission Principles and Consultation Questions

The Human Genetics Commission released today "A Common Framework of Principles for direct-to-consumer genetic testing services: Principles and Consultation Questions". A copy can be downloaded here.

The purpose of the document:
"promote high standards and consistency in the provision of direct-to-consumer genetic tests amongst commercial providers at an international level in order to protect the interests of people seeking genetic tests and their families. They will identify where individual companies and or national jurisdictions should have defined measures in place and the nature of those measures. " - pg 1
"The HGC is not a regulatory body. It hopes that these Principles will lead to the development of codes of practice that take account of existing regulatory structures where the need for additional regulation or legislation is revealed to be necessary."
Excerpt that references ancestry testing:
"Other tests can also provoke anxieties, such as ancestry tests that offer fundamental information about identity and ethnicity."

Tuesday, July 7, 2009

UK - House of Lords calls for gene testing "Code of Conduct"

BBC News' online article "Call for tougher gene test rules" states that,
"The House of Lords Science and Technology Committee said a code of conduct was needed to stop bogus claims being made. The report also said the tests, which predict the risk of disease later in life, needed to be more thoroughly reviewed before being marketed."
The article goes on to say,
"Health firms have already started to exploit the issue by offering genetic testing, which can give people an idea of the risk they face of getting a range of diseases from heart disease to Alzheimer's. The committee said it was concerned that unproven claims were being made and that individuals were not being offered the proper support and counselling to understand and cope with the results."

Unfortunately, the article does not state or cite examples of "exploitation" and any "unproven claims". However, it does state that NHS staff need additional training to meet the "increasing demands" of people worried about their test results. Again, the article is non-specific about just what the "demands" are and where the test results were obtained.


Friday, July 3, 2009

US - The Illusive Gold Standard in Genetic Ancestry Testing

"The Illusive Gold Standard in Genetic Ancestry Testing" published in the 3 Jul 2009 issue of Science Magazine calls for federal (US) regulation of genetic ancestry DNA testing. The authors are: Sandra Soo-Jin Lee, Deborah Bolnick, Troy Duster, Pilar Ossorio, and Kimberly Tallbear.

Dr. Blaine Bettinger provides an overview and critique on the article in his blog, "The Genetic Genealogist".

The article cites the American Society of Human Genetics' recommendations on ancestry testing but injects opinion as well with statements like, "...the false assumption that contemporary groups are reliable substitutes for ancestral populations..." and "...the lack of transparency regarding the statistical methods that companies use to determine test results".

The authors suggest that federal agencies should set industry standards and be responsible for accountability although they acknowledge that "how these regulations will be put in place is going to be a struggle between various parties that have shown little indication that there will be a compromise that will be acceptable to all."

Two press releases were issued as a result of the article: "
Stanford Bioethicist and Colleagues Call for Federal Regulation of Genetic Ancestry Testing" and "Tougher controls sought for DNA ancestry testing" in which the latter cites the now defunct company, AncestrybyDNA.

Thursday, January 1, 2009

History - ACMG Statement on Direct-to-Consumer Genetic Testing

Everything has a history.  The history of concern by academia over Direct-to-Consumer (DTC) genetic testing dates back to at least 2004 in which it manifested itself in a published statement from the American College of Medicine Genetics.  

The statement contains a mere 132 words, yet that is enough to convey their message: "
Due to the complexities of genetic testing and counseling, the self-ordering of genetic tests by patients over the telephone or the Internet, and their use of genetic “home testing” kits, is potentially harmful.  Potential harms include inappropriate test utilization, misinterpretation of test results, lack of necessary follow-up, and other adverse consequences."

- ASMG Policy Statement - January/February 2004 Vol. 6 No. 1

As of 2009, it is unknown if their concerns have become a reality.  On the contrary, there are documented cases of patients using the tests for improving their healthcare decisions. Visit our "Success Stories" section to view such cases.