IBMs Pledges to Protect Genetic Privacy of Workforce

Developing story from the New York Times:

I.B.M., the world’s largest technology company by revenue, is promising not to use genetic information in hiring or in determining eligibility for its health care or benefits plans. Genetics policy specialists and privacy rights groups say that the I.B.M. pledge to its more than 300,000 employees worldwide appears to be the first such move by a major corporation.

Steve Lohr. "I.B.M. to Put Genetic Data of Workers Off Limits" October 10, 2005

Update: Over at IBMs excellent collaborative blog on the future of healthcare, HealthNex, IBM’s Chief Privacy Officer Harriet Pearson introduces the genetic privacy policy and says "I hope the fortuitous coincidence of these public events [Eddy Curry case, IBM's policy, etc] — and many
more that will certainly arise in the weeks, months and years ahead –
will promote the kind of discussion around the future importance of
genetic security and privacy that our policy initiative today was
intended to generate."

Update2:  Amy Barrett. "IBM’s Smart Stance on Genetic Testing" OCTOBER 11, 2005

Eddy Curry and a genetic test for Hypertrophic Cardiomyopathy

Apparently the Knicks have picked-up Eddy Curry from the Bulls, bringing to a close (for now) a story that appeared to be heading toward a dramatic conclusion: a career being determined by the result of a genetic test.

Here is an outline of the story:  Eddy Curry has had some heart problems recently.  Doctors disagree about the diagnosis.  It has been suggested that he may have Hypertrophic Cardiomyopathy (HCM), a serious and potentially fatal heart condition.  Vigorous exercise, like playing basketball, can be fatal for people with HCM.  Several athletes with HCM have died while playing professional sports in recent memory.  One doc told the Bulls that there is a genetic test for HCM.  This past week, amid contract negotiations the Bulls request that Eddy Curry submit to a genetic test for HCM.  Eddy Curry refused.

The main issues here are: (1) Should an employer be able to demand that an employee take a genetic test (and share the results)? (2) Should employers be able to make employment decisions based on genetic information?  (Editor: Answers aren’t necessarily straightforward by the way, demonstrated by the sheer variety of reactions to the Eddy Curry case.  This is an excellent opportunity to work through the issues.)

AP, Bulls Ship Curry to Knicks, New York Times. Oct 3 2005.

Laura Spinney. Heart-stopping action. Nature. 04 August 2004.

Henry T. Greely, Banning Genetic Discrimination, NEJM September 1, 2005.

P. A. Schulte, Geoffrey Lomax. "Genetic Testing of Railroad Track Workers with Carpal Tunnel" Human Genome Epidemiology. Chapter 29.

Genetic Screening and Life Insurance

Quest Diagnostics recently acquired LabOne, which puts them in the position to get involved in genetic screening of life insurance applicants.  A recent quote from the CFO of Quest (via Medscape):

"Gene-based testing allows you to do predisposition testing, and I don’t know that there’s a lot of that done today on the life insurance side, but certainly that’s an opportunity as we go forward because it gives you a better profile of the individual’s risk," said company Chief Financial Officer Robert Hagemann.

What does this mean for life insurance and those seeking it?  I don’t have the answers to this question at the moment, but the best source of information that I’m aware of on this subject is a recent book edited by Mark Rothstein (who also edited a collection of papers on genetics and privacy).

Mark Rothstein (editor). Genetics and Life Insurance : Medical Underwriting and Social Policy. MIT Press, 2004.

Public Opinion on Genetic Discrimination

Do you agree with the following statement:

"Genetic testing is not a good idea because you might have trouble getting or keeping your insurance."

In a recently published study, nearly 87,000 people were asked this question and 40% agreed.  The authors note  "[d]espite this concern, people were willing to be tested, and we didn’t see any clear sign that this concern was a large

deterrent to being tested."  Interestingly, they found that participants from states with legal protections against genetic discrimination were more concerned about discrimination than residents from states with no legal protections.

Hall, Mark A et al. "Concerns in a primary care population about genetic discrimination by insurers." Genetics in Medicine. 7(5):311-316, May/June 2005. (subscription only)

"Study finds research participants concerned about genetic discrimination" Medical News Today. May 26, 2005.


NHGRI is launching a pilot study called clinEncode:

…researchers will sequence a portion of DNA from 400 seemingly healthy volunteers and try to discern each person’s unique genetic risk factors for disease. They also plan to study the reactions of the volunteers to learning these results…The 400 volunteers will donate DNA and undergo a battery of tests, including blood pressure measurements and white blood cell counts. [NHGRI’s Eric] Green and his colleagues will sequence the same 1% of each person’s genome, regions that are already being intensely studied by basic researchers.  Green’s team plans to report back any variations spotted, including ones that may explain a person’s current and future health status. It’s not clear how people will react to such results. Previous studies involving genetic testing for specific diseases have suggested that people can handle bad health news.

Pennisi, E. "Gene Sequence Study Takes a Stab at Personalized Medicine" Science. May 20, 2005. (subscription only)

Critics Circle: Genographic Project

First crop of critics of the Genographic Project have emerged.  Here is an overview:

  1. involving the public may not be useful, involving the public is expensive, the volume of respondents may be surprisingly high (Andrew Paterson, a scientist at the genetics and genomic biology group at the Sick Kids Research Institute)
  2. control over sample collection is weak, self-reporting is often inaccurate, look-out for contamination of samples (Steven Scherer, senior scientist at the genetics and genomic biology group at the Sick Kids Research Institute)
  3. should have gone the extra mile and made a biobank of the DNA samples (Kenneth K. Kidd, professor of genetics and psychiatry at Yale Med)
  4. should have used DNA Genotek’s Oragene kit rather than buccal swabs (company CEO Ian Curry)

Sarah Lysecki. "National Geographic’s DNA database raises doubts", 4/18/2005.

Update 4/21/05

The Indigenous Peoples Council on Biocolonialism objects to the Genographic Project and Spencer Wells responds.

DNA Direct Offers Genetic Testing Direct to Consumer

San Francisco based DNA Direct began offering genetic testing services direct to consumer (DTC) in early October.  You may remember that DNA Direct was introduced on this blog back in March, in reference to a New York Times article on DTC genetic testing.   

Currently DNA Direct offers genetic testing services for inherited blood clotting disorders and plans to offer testing services for other conditions in the future. 

Here is a summary of the testing process (see here), as outlined on their excellent webpage:  The decision to test is made by a medical consumer, perhaps with the aid of a risk assessment questionnaire offered free on their website.  A cheek swab kit is mailed to the person, swabbing ensues, and the kit is mailed to a lab for analysis.  A ten chapter personal report is made available via the web.  It contains the results of the test and descriptions of how to understand the results in relation to risks, lifestyle, family, and healthcare.  DNA Direct also provides genetic counseling services over the phone.

In a recent press release, CEO Ryan Phelan discusses her motivation for founding DNA Direct:

“At DNA Direct, we believe that testing is about empowerment - your body and your health are ultimately your responsibility, and your genes offer tremendous insight into personal, medical and lifestyle choices…Genes are a valuable part of the equation, and they must be interpreted in context and in privacy. We have set up a unique service that does just that – while providing individuals with knowledge and insight to take control of their personal health.”

DNA Direct

DNA Direct, "Lifestyle & Heredity: Genetic Test Helps Individuals Evaluate and Reduce Blood Clot Risk", Yahoo! Oct 13, 2004.

Naomi Freundlich, "Genetic Predictions: Just a Swab Away." NYT March 21, 2004.

GeneClinics: Factor V Leiden Thrombophilia

KU Medical Center: Factor V Leiden Thrombophilia

German Job Applicants: Genetic Testing in Your Future?

The British Medical Journal is reporting that there is draft legislation in Germany that some fear will enable genetic testing of job applicants for hereditary diseases.  This fear was raised by Spiro Simitis, head of the  German National Ethics Council, in a recent der Spiegel article.  Attention is focused on one clause in this piece of legislation [as translated by BMJ]:

"genetic examinations at the level of phenotypes will be allowed in as far as they permit an assessment of the [applicant’s] current suitability for a certain type of job."

How big of a net does "current suitability for a certain type of job" cast?  Not so big that it includes testing for hereditary diseases, but big enough that it includes testing, say, bus drivers for color blindess, according to one government official.

Jane Burgermeister, "Germany may allow employers to introduce gene tests for job seekers."  BMJ October 23, 2004.

German National Ethics Council can be found here.

Anonymous. "Gesetzentwurf ermöglicht Gentest für Job-Suchende" der Spiegel. October 9, 2004. [see Babelfish for translation]

Advice from Vikings: Public Opinions Matter

A new poll by PARADE/Research!America recently asked 1000 Americans what they think about genetic testing and biobanking.  Here is a brief summary of a couple key findings:

Q: "Would you be willing to be genetically tested to help doctors diagnose and prevent disease?"
A: 57% yes

Q: "Would you be willing to contribute a sample of your DNA to a national databank to be used only for health related research?"
A: 48% Yes

Q: "What concerns, if any, do you have about genetic testing?"
A: 39% No concerns 
  ~15% concerned with misuse/abuse of info
  ~15% either "don’t know" or "don’t understand"
  ~11% are concerned with privacy   

In the grand scheme of things, how much does current public opinion of these issues really matter?  Luckily, there is a real-life case study unfolding in Iceland that should be instructive in answering this question.  In his editorial in the September Technology Review, David Rotman had this to say about the force of public opinion in shaping the success of the Icelandic biotech DeCode Genetics

"The beginnings of deCode, however, were mired in controversy, most of it centered on worries over privacy and a general unease about granting a single biotech company ownership over a population’s genetic legacy (see “Your Genetic Destiny for Sale,” TR April 2001). The good news…is that almost everyone…in Iceland, from cab drivers to patients, now embraces the effort.  What’s more, the experiment seems to be working: deCode reports its pipeline is bursting with potential drugs…

Revisiting [the DeCode Genetics] story yields a few clear lessons. First, a country’s public attitude to technology does matter. Second, and just as important, given the right climate, public views can evolve. Efforts comparable to deCode’s in the United States and the United Kingdom met similar fears and were either quickly shut down or, as in the case of the U.K. Biobank, slow to get off the ground. (The U.K. Biobank now says it will get fully under way in September 2005.) To their credit, the people of Iceland dealt with the issues, compromised, and efficiently pushed ahead with what many now recognize as vitally important medical research. Perhaps it was a courage in the face of the unknown inherited from Viking ancestors."

Ralph Snyderman of Duke University sees a related problem with attitudes toward genomics in medicine: thinking of it too much in terms of the next era in medicine and not enough in terms of here and now.  In a recent Parade article, Dr. Snyderman had this to say:

"People think that genomics will have an impact in their children’s lifetime, but it is happening now. I urge them to rush to take advantage of it for the sake of living longer, healthier lives." 

PARADE/Research!America poll results

Dianne Hales. "Treatment Tailor-made For You." Parade. September 19, 2004. (html or pdf)

David Rotman. "Getting the Whole Story." Technology Review. September 2004, p.7 (subscription)

CDC’s Family History Initiative

Michael Specter’s 1999 New Yorker article on DeCode Genetics.
More papers on DeCode Genetics, or how about video.

See the Duke Prospective Health Program

Here are some other findings from the poll worth mentioning since they will surely blow the minds of historians in 50 years:
Have you ever used email to communicate with your doctor or health care provider?
90% No

Have you ever asked your doctor or another health professional to let you see your medical records?
61% No

How useful would it be if you could look at your personal medical records online?
50% Not useful or don’t know

Myriad DTC Genetics Marketing

Between September 2002 and February 2003 a genetic test was marketed direct-to-consumer (DTC) by Myriad Genetics, perhaps the first legitimate medical genetic test to go DTC.  The ad campaign by Myriad was for BRCAnalysis, a genetic test measuring risk for breast and ovarian cancer based on the presence/absence of mutations in specific genes.  The campaign aired in only two cities, Denver and Atlanta.

A recent Business Week article describes Myriad’s campaign as well as a follow-up study conducted by the CDC assessing it’s impact on consumer behavior in the test markets.  The CDC report provides the following summary of these results:

"consumer and provider awareness of BRCA1/2 testing increased in the pilot cities and… providers in these cities perceived an impact on their practice (e.g., more questions asked about testing, more BRCA1/2 tests requested, and more tests ordered)."

So far so good.  Then the authors of the CDC study continue:

"However, in all four cities, providers often lacked knowledge to advise patients about inherited BOC and testing. These findings underscore the need for evidence-based recommendations on appropriate use of genetic tests and education of providers and the public to achieve maximum individual and public health benefit from genetic testing."

Indeed, there are only about 400 genetic counselors in the U.S. that specialize in cancer genetic counseling.  A napkin sketch of the numbers…approx. 290 million U.S. population, 150 million female population, say 1% of the female population are candidates for genetic testing for breast cancer, then roughly 1.5 million women are potentially in need of genetic counseling at some point for this test.

How about virtual genetic counseling?  Probably not for everyone, but likely to get much much better (and much much more popular?).  A recent EurekaAlert public release describes a recent study of virtual genetic counseling for breast cancer:

An interactive computer program developed at Penn State College of Medicine is as effective as one-on-one genetic counseling for increasing knowledge of breast cancer and genetic testing among women at low risk for breast cancer…Counselors were, however, more effective than the computer program at reducing women’s anxiety and helping them to more clearly understand their risk.

"’These results suggest that the computer program has the potential to stand alone as an educational intervention for low-risk women, but should be used in combination with one-on-one genetic counseling for women at high risk,’ said Michael J. Green, M.D., M.S., associate professor of humanities and medicine, Penn State College of Medicine. ‘The computer program is an alternative means of communicating information about genetic testing and may help women without access to genetic counselors to decide whether or not to have genetic testing for susceptibility to breast cancer.’"

How will personal genomics change the nature of genetic testing?  Currently, a person may go to their doctor or genetic counselor to discuss the availability, accuracy, and helpfulness of genetic tests for a specific disease that is prevalent in their family.  This person may decide to go ahead with the test; a buccal swab is taken and sent to a lab; several weeks pass and the patient and doctor meet again to discuss the results.  In the future, a person might need only to jump online, access their genome (which is attached to their electronic medical record), and click-through a virtual test since the genome sequence is already known.  Educational materials and virtual counseling are available throughout this online experience.  For those who desire face-to-face counseling (including the possibility of video webchat), an appointment can be made online at any time.

Amy Tsao. Genetic Testing Meet Mad Ave. Business Week.  July 28, 2004.

Jacobellis, J. et al. Genetic Testing for Breast and Ovarian Cancer Susceptibility: Evaluating Direct-to-Consumer Marketing — Atlanta, Denver, Raleigh-Durham, and Seattle, 2003.  MMWR weekly. 53(27):603-606 July 16, 2004.

The press release announcing the DTC campaing for BRCAnalysis by Myriad Genetics.

Press Release. Virtual counselor supplements traditional genetic counseling. EurekaAlert. July 27 2004.

Green MJ et al. Effect of a computer-based decision aid on knowledge, perceptions, and intentions about genetic testing for breast cancer susceptibility: a randomized controlled trial. JAMA 292(4):496-8.

Other Resources:
National Cancer Institute on Breast Cancer

National Cancer Institute on Ovarian Cancer

Myriad Genetics on Ovarian and Breast Cancer


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