Yay or Nay for Genetic Testing?

by Dr. Hsien-Hsien Lei
Posted February 28, 2009 in DNA Testing

Today, CNN featured Dr. Robert Superko at St. Joseph’s Hospital in Atlanta, Georgia who is recommending genetic testing to patients at risk for cardiovascular disease.

Dr. Superko:

If you have heart disease and you have one of these heart disease genes, then the likelihood that is contributing to your problem is very high. If [the testing] gives you a therapeutic direction, a diet or drug to take, then it becomes valuable.

But he is not making a rare endorsement of direct-to-consumer testing:

It is easy to get confused about test results, especially those received through the mail. You may not understand what they mean and you can get unduly concerned.

Basically, it’s yay for genetic testing if you go through your doctor and nay for genetic testing if  you don’t.

Although, his patient, Donna Mitchell, might not agree:

I think you need to take advantage of everything you can to prevent problems. [Genetic testing] was a no-brainer for me.

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American Clinical Laboratory Association Tips for Consumers of Genetic Tests

by Dr. Hsien-Hsien Lei
Posted February 25, 2009 in DNA Testing

Thinking about purchasing a genetic test? The American Clinical Laboratory Association (ACLA) recommends that consumers ask the following six questions:

1. Is the test done in a medical lab certified under the Clinical Laboratory Improvement Amendments (CLIA)?

2. Is a genetic counselor, physician or other knowledgeable health professional available to assist you in selecting tests and interpreting results?

3. Do the claims seem hard to believe?

4. Are other products, such as nutritional supplements, being sold along with the test?

5. Are you willing to be “an informed” consumer — that is, take the time to understand what genetic testing tells you?

6. Does the provider of the service offer adequate assurances that your genetic information will be kept private and secure?

The ACLA’s educational campaign “Results for Life” also has an informative storyboard about genetic tests (pdf) and how personalized medicine can help with each stage of diagnosis and treatment to predict, screen, diagnose, select treatment, and manage the disease.

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Navigenics Introduces Physician Portal and Annual Insight Service

by Dr. Hsien-Hsien Lei
Posted January 29, 2009 in DNA Products, DNA Testing

Consumers of genetic testing now have two new services to consider from Navigenics.

From the press release:

Navigenics’ Physician Portal

…Navigenics has developed the ability for physicians, with the approval of their patients, to receive and easily review patient genetic results online, with easy access to condition information, action steps, and original scientific research. Access to the physician portal is free to physicians who register their practices.

Annual Insight Service

Navigenics’ Annual Insight service retails for $499 and analyzes an individual’s genetic predisposition for ten common health conditions (nine each for men and women), including breast cancer, prostate cancer, colon cancer and heart disease.

Annual Insight also includes one hour of genetic counseling and if the consumer chooses to upgrade, the cost can be applied to the more comprehensive Health Compass service that includes a genome-wide scan, 24/7 genetic counseling, and ongoing updates for $2500.

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Parenting Children Using Genetic Tests

by Dr. Hsien-Hsien Lei
Posted January 11, 2009 in DNA Testing

Trolls have been around these here parts. They’re upset because I wrote disparaging remarks about a particular company marketing DNA tests for detecting a child’s “innate talent.” But contrary to their accusations that I deny the genetic basis of behavior, predisposition, and temperament, I actually believe that many, if not almost all, human traits are influenced by genetic make-up.

My problem with genetic testing companies that target parents seeking to hothouse their children is that the biological mechanism of the few behavioral genes that have been identified are poorly understood. In addition, we have limited data on how these genes interact with other genes and with environmental exposures. Parents who think they will raise the next Bill Gates or Mozart by purchasing a test that focuses on a limited panel of genotypes are sadly deluded.

Last year I shared a Steven Pinker quote from Curious Minds: How a Child Becomes a Scientist that I think about all the time when parenting my own children:

With constitutional factors (genes and chance) being important but invisible, people tend to blur cause and effect in thinking back on supposedly formative childhood vignettes. …Rather than childhood experiences causing us to be who we are, who we are causes our childhood experiences.

This Sunday’s New York Times features My Genome, My Self - Steven Pinker Gets to the Bottom of his own Genetic Code in which Dr. Pinker points out that no matter how parents contrive to create the perfect environment for their children, when the children become adults, they will most likely gravitate towards experiences that suit their innate genetic tendencies. Would this be an argument for or against genetic testing in childhood?

A common finding is that the effects of being brought up in a given family are sometimes detectable in childhood, but that they tend to peter out by the time the child has grown up. That is, the reach of the genes appears to get stronger as we age, not weaker. Perhaps our genes affect our environments, which in turn affect ourselves. Young children are at the mercy of parents and have to adapt to a world that is not of their choosing. As they get older, however, they can gravitate to the microenvironments that best suit their natures.

Of course every parents has the right, and the power, to subject their children to genetic testing. In some cases, these tests may predict future debilitating diseases. And with these results, parents can help children live healthier lives with preventive lifestyle changes. Such is the power of genetic testing.

When it comes to genetic testing for academic, musical, or athletic talent, however, the results are far more ambiguous. Not only will the child be directly impacted by the results, the rest of the family will be impacted as well. Say parents scrimped and saved to get their child tested so they can make sure she becomes a success in life and help guarantee the family’s financial security. If the cost of the test plus other enrichment courses suggested by the test results impinge on the family’s overall well-being and lifestyle, it’s possible the investment may not be worth it. Or what if it turns out the child has a very average genetic profile? Would the parents be less likely to devote any time or effort into raising her?

Regardless, a child who supposedly has genes for high IQ may very well also have the trollism gene that relegates him to being a low-EQ jerk. Hardly a marker of future success. And as Peggy pointed out, genetic testing companies that target parents most likely will not include negative genes in any report. Nobody wants to be the bearer of bad news. Unless you’re a troll, that is.

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Testing Children for Sporting Ability Genes

by Dr. Hsien-Hsien Lei
Posted January 8, 2009 in DNA Testing

Word of warning if you’re thinking about “encouraging” your child to take up a sport based on his/her genetic test results.

In February 2008, a 15-year-old Singaporean boy committed suicide by jumping from his family’s 11th floor apartment. He had become a track and field star at his secondary school and was being pressured to continue the extra-curricular activity even though he wanted to pursue drama instead.

Parents walk a tightrope every day. We either feel that we’re too soft on our children or that we pressure them too much. Push them too little and they may fail to achieve their full potential. Push them too much and they rebel and go the opposite way, sometimes ending in tragedy.

With genetic test results in hand, parents may feel tempted to wave it in the child’s face and say, “But you can’t give up! Your destiny is here. You have two copies of the ACTN3 gene. You were born to be a track and field star.”

But sometimes, what’s in your genes isn’t in your heart. I’d rather my children followed their heart.

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Ambiguous Results from Genetic Testing

by Dr. Hsien-Hsien Lei
Posted January 6, 2009 in DNA Testing

Tests = Questions + Answers

The above might apply in school but it doesn’t necessarily compute when it comes to genetic testing.

Last week, NPR aired a story on the Gilmore family. Dan Gilmore inherited a BRCA mutation from his mother who died of breast and ovarian cancer. On the other hand, his wife, Susan who had no signs of having cancer, was told that she most likely did NOT inherit a BRCA mutation despite a spotty family history. Whether or not she chose to be tested was up to her and was not as relevant as it would be for their three daughters.

Unfortunately, Susan’s genetic test results came back just as spotty. It turns out that she carries a variant mutation of “undetermined significance” which may or may not increase her risk of breast and/or ovarian cancer.

Susan is among the 10% of BRCA genetic test takers who get results of undetermined significance. Beth Peshkin, the Gilmores’ genetic counselor at the Lombardi Comprehensive Cancer Center at Georgetown University, says that as genetic testing becomes more common among asymptomatic people with no family history of disease, such uninformative results will become even more common. Given the type of people who currently take genetic tests for BRCA, around 1 in 2 people will receive ambiguous results.

Genetics Home Reference has more information on negative results that are “uninformative, indeterminate, inconclusive, or ambiguous”:

Uninformative test results sometimes occur because everyone has common, natural variations in their DNA, called polymorphisms, that do not affect health. If a genetic test finds a change in DNA that has not been associated with a disorder in other people, it can be difficult to tell whether it is a natural polymorphism or a disease-causing mutation. An uninformative result cannot confirm or rule out a specific diagnosis, and it cannot indicate whether a person has an increased risk of developing a disorder. In some cases, testing other affected and unaffected family members can help clarify this type of result.

While ambiguous results from the BRCA genetic test indicate uncertainty regarding the interpretation of results, inaccurate tests cause another type of ambiguity. For example, Baylor College of Medicine offers prenatal DNA testing that is more sensitive than those usually available. This genetic test can detect more than 200 genetic abnormalities in the fetus but critics question the accuracy of such a test and the consequences of false positive results. Dr. Arthur Beaudet says that ambiguous results occur in only 1 our of 100 pregnancies.

Amateur genetic genealogists may also find themselves in a quandary when results from different providers don’t match up. One Genealogy-DNA listserv participant purchased tests from three different companies. Two companies’ results matched up but the third did not. After a year of wrangling with the company, the lab manager finally admitted that a technician made a “stupid mistake.”

With respect to direct-to-consumer (DTC) genetic testing and ambiguous results, Heidi C Howard and Pascal Borry wrote in Future Medicine (PDF) that people who seek genetic testing even when there is no medical or clinical necessity “challenge the organization of public healthcare systems” because they will most likely receive “dubious and ambiguous results.” The authors suggest that these individuals would be better served with genetic counseling rather than testing itself.

Would you prefer having no results at all to ambiguous results? Or would you take the chance on getting informative results that may be bad news?

Artwork from flickr by Paul Downey

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Consumer Genetics Show 2009 in Boston

by Dr. Hsien-Hsien Lei
Posted November 19, 2008 in Business of DNA, DNA Testing

Here’s where most of my fellow DNA Network members would surely like to be next summer - the First Annual Consumer Genetics Show at the Hynes Convention Center from June 9-11, 2009.

Speakers include:

• George Church, PhD, Professor of Genetics at Harvard Medical School and founder of the Personal Genome Project (as seen on PBS)
• Dietrich Stephan, PhD, co-founder of Navigenics
• Jorge Conde, CEO, Knome
• Ryan Phelan, CEO, DNA Direct
• David Ewing Duncan, Bestselling author and award-winning journalist

Show objectives include:

• Regulatory issues
• Intellectual property considerations
• Interaction between biotechnology, molecular diagnostic, and pharmaceutical markets
• Role of physicians in helping patients interpret results from direct-to-consumer (DTC) genetic tests
• Effect of DTC market on molecular diagnostic laboratories
• Patient and consumer security (Blaine at The Genetic Genealogist recently wrote about security at Navigenics and 23andMe)
• Public relations and business strategies to optimize public perceptions of DTC genetic testing (given persistent negative opinions issued by various experts and professional societies)

Are you planning to attend?

Photo credit: Pieter Musterd

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Family History of Disease Scares Parents More Than Genetic Test Results

by Dr. Hsien-Hsien Lei
Posted November 6, 2008 in DNA Testing, DNA and Disease

Should parents purchase direct-to-consumer genetic tests for their under-age children? Joanna Mountain, Senior Director of Research at 23andMe, chose to do so for her two sons and found it to be a positive experience overall (of course!). I have not done so for my two children and haven’t even done so for myself. Just call me chicken.

In a timely study published in the November issue of the Archives of Pediatrics & Adolescent Medicine, researchers at the University of Michigan CS Mott Children’s Hospital staged a hypothetical situation and randomized over 1,300 parents to receive hypothetical genetic risk assessments framed as family history or genetic test results. They found that parents were actually more worried if they had observable, tangible evidence of a family history of disease than if the results were purely based on genetic tests.

So it seems that nothing strikes fear into our hearts more than knowing that a family member is ill and that we may also have inherited an increased susceptibility to the illness. While genes may be floating around in our consciousness, they remain an abstract concept that most of us are not able to include in our daily risk analyses.

NB: Daniel MacArthur at Genetic Future has more on genome scans for the whole family although he considers it mainly from a business perspective than from one as a parents since he isn’t one yet.

via Los Angeles Times

Photo credit: Wellcome Images

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How Many Ways Can A Physician Be Sued (Over Genetic Tests)?

by Dr. Hsien-Hsien Lei
Posted November 4, 2008 in DNA Testing, DNA and the Law

…American Medical News counts the ways in Judging genetic risks: Physicians often caught between what patients want and what science offers.

1. Wrongful Birth/Life - Patients may sue physicians for not providing enough genetic testing or giving false negative test results.
2. Pharmacogenomics - Patients may sue doctors for not ordering genetic testing before prescribing certain medications, such as Coumadin (warfarin)
3. Negligent Medical Advice - Patients may sue a doctor who does not warn them of shared familial genetic risk of disease. Judges in a 2004 Minnesota Supreme Court case ruled that physicians had a duty to both patients and their biological family members to inform of them of genetic testing and diagnosis.
4. Personal Beliefs Over Patient Rights - Physicians may not be able to claim “right-of-conscience” when it comes to denying patients genetic testing on the grounds of religious or moral beliefs.

Patients should also keep in mind that their physician may not be well-versed in genetics and is most probably not up-to-speed on the latest available genetic tests. Considering the complexity of genetics, can we expect busy doctors to keep abreast of the field? Perhaps one solution is to increase the number of genetic counselors available and making their services affordable and commonplace. On second thought, isn’t that what some direct-to-consumer genetic testing companies are aiming to do?

*Yes, I am affiliated with DNA Direct that offers pre- and post-test education and expert consultation on genetic tests.

Photo credit: Joe Gratz

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Bioethicist Arthur Caplan Says Corporate Greed Drives Genetic Testing Marketplace

by Dr. Hsien-Hsien Lei
Posted October 15, 2008 in DNA Testing, DNA and Disease

Fresh on the heels of the launch of the deCODE BreastCancer genetic test last week, Dr. Arthur Caplan, renowned director of the University of Pennsylvania Center for Bioethics, said in an article for MSNBC.com that breast cancer gene tests are not worth the price.

If you are worried about your risk of getting the disease, or are thinking about getting a genetic test done for any other reason, talk with your doctor or a genetic counselor who can determine whether your family history justifies the expense. You may be surprised to find that you can make changes in lifestyle and monitoring your own health that can reduce your risk without testing.

Dr. Caplan even goes so far as to accuse genetic testing companies of corporate greed which, given the current economic environment in the U.S., is bound to send shivers down their spine.

With respect to deCODE’s breast cancer genetic test, it examines seven single nucleotide polymorphisms* (SNPs) that are purportedly involved in 60 percent of all breast cancers. Results from the test are given as personal lifetime relatively risk compared to the general population (specifically people of European descent). Other risk factors such as family history, pregnancy history, etc. are not taken into consideration when calculating a deCODE BreastCancer genetic test taker’s risk.

deCODE’s Chief Scientific Officer, Dr. Jeff Gulcher, responded to Dr. Caplan on its blog, deCODE You (a member of the DNA Network) and drew analogies between the BreastCancer genetic test and LDL-cholesterol tests. Anyone who is identified to be at higher risk of breast cancer (or in the analogy, high cholesterol leading to cardiovascular disease) would benefit from greater vigilance, more intensive screening, and possibly, preventive therapy.

Another DNA Network member, Dr. Steve Murphy at Gene Sherpas calls the deCODE BreastCancer test “hype.” Cancer Research UK also believes that “it’s too early for a test of this kind to be released to the general public.” Dr. Len Lichtenfeld of the American Cancer Society does not believe the test will “advance our cause in the fight to reduce deaths from cancer in a meaningful, evidence-based and scientifically accurate way.”

Speaking of cost, though,it seems that 23andMe customers get the better deal because all of the six of the seven SNPs (rs4415084 was on the v1 chip but not on the v2 chip) examined in the deCODE BreastCancer genetic test are included on version 2 of the 23andMe gene chip (I checked using SNPedia) not to mention the other nearly 600,000 SNPs included in the 23andMe report. A 23andMe DNA test costs $399 while a deCODE BreastCancer genetic test costs $1,625.

deCODE’s test offers other bits and fancy algorithms for calculating risk to justify the price. But customers should be aware that there is more than one way to get the genetic data they desire. And that data’s worth can be hard to price.

*See the list of SNPs in this sample report (pdf).

via Al’s Morning Meeting at Poynter Online

NB: I am a consultant to DNA Direct, a genetic testing company.

Photo Credit: abbyladybug

*Thanks to Mike Cariaso of SNPedia for clarifying what’s on the 23andMe chips.

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