Direct-to-Consumer Genetic Testing: Are Patients Ready?

Last Updated on March 31, 2018 by Joseph Gut – thasso
March 31, 2018 – Are patients ready for direct-to-consumer genetic testing? This was the very important and central question that came up in the article by Matt Smith on Medscape, published March 29, 2018.
Since thasso is all about theragenomic and personalized medicine and individualized drug safety (i.e. using all possibly available knowledge about genetic outfits of each individual patient for meaningful, well thought-out, and successful therapy selection in combination with avoidance of serious and life-treathening adverse therapy effects), we feel that our reader should have access and knowledge of the article by Matt Smith. While in his article, the focus is on whether patients are ready for direct-to-consumer genetic testing (DTCGT), many of his touched-upon aspects may translate into more general questions such as a) is society as a whole ready for DTCGT, b) who owns individual and personal information gained through DTCGT, c) where are the limits where reckless business people use your personal genetic information to their business advantage and, frankly and open, in a discriminatory way against you as a patient, and d) what is the stance (current and prospective) of legislation in these issues?
In any case, please find here below the full article by Matt Smith, unedited and not further commented on. It is well worth reading it in full:
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Are patients ready for direct-to-consumer genetic testing?
Federal regulators are slowly opening a lid on direct-to-consumer genetic testing, allowing people to learn for themselves whether their DNA carries strands that may make them more likely to get some life-threatening diseases.
But whether that lid opens a valuable new toolbox or a medical Pandora ’s Box may depend on what the buyer does with that information, experts say.
Will knowing your cells carry a gene connected to a deadly disease prompt healthy changes, or unnecessary fear? Will a clean report lull people into a false sense of security, leading them to skip steps that might prevent it? How much would you want to know? Who should you tell?
The FDA’s recent decision to allow the popular genetic analysis firm 23andMe to tell consumers whether they carry any of three gene mutations that have been linked to breast and ovarian cancers has brought questions like those to the forefront. Now that it’s possible to have more widespread genetic testing, several medical organizations and patient advocates are optimistic, but they also have concerns about unplanned consequences.
“We’re now in an era of rapidly changing science and rapidly changing application of that science, not only to our health care but other aspects of our lives as well,” says Len Lichtenfeld, MD, deputy chief medical officer for the American Cancer Society.
“Inevitably, every time you answer one question … you raise more questions,” he adds.
A Billion-Dollar Industry
Since 1983, when scientists were first able to identify a gene associated with a specific disease, researchers have drawn connections between specific snippets of DNA and dozens of diseases. Genetic testing is already a billion-dollar industry, and some research estimates that it could grow to $10 billion in the next decade. It’s already spawned a new health care specialty: genetic counselors, who help guide people through the process and what their results may mean — or don’t.
But genetic testing “is a very complex area,” Freivogel says. “We need to make sure we have tools in place to guide consumers in the right direction when they’re interpreting what test results mean.”
Advocates say genetic tests can help doctors identify people who are more likely to have some types of cancers or chronic illnesses and recommend steps they can take to manage that risk. A woman who carries the gene variants linked to breast cancer may want to start getting screened earlier and more often — or even consider preventive surgery to remove all or part of her breasts.
But knowing whether someone has a gene related to a disease is a long way from a diagnosis.
Test Has Serious Limitations
Since most breast cancers aren’t caused by the mutations 23andMe can identify, “It seems to me a risk of wasting money on people who aren’t in the risk population,” Caplan says.
In a written response to questions, 23andMe said it “strongly” recommends customers whose results point to a higher risk “to speak to a healthcare professional about additional testing to confirm this result and to better understand their potential cancer risks.”
“This test does not diagnose cancer or any other health conditions and is not a clinical test,” the company says. It doesn’t describe anyone’s overall chances of having a disease, or account for the effect someone’s lifestyle or environment has on that risk.
But the company says a positive test “is very informative and may significantly increase one’s genetic risk for certain cancers, especially breast and ovarian cancer.”
A positive result comes with an e-mail acknowledging that the results “can be upsetting or cause anxiety.” It urges the buyer to discuss the results with a doctor or a genetic counselor for support and “since there may be preventive options that are effective in reducing cancer risk.” The notification also suggests thinking about whether the news should be shared with relatives, “since they may also have the risk variant.”
The approval of the testing is subject to “special controls” to ensure safety and effectiveness, the FDA says — and 23andMe says it has had to demonstrate its lab’s accuracy to more than 99%.
But knowing whether someone has a gene related to a disease is a long way from a diagnosis.
“All of that’s missing with the 23andMe test, so it is concerning to us,” she says. And testing only for three BRCA mutations and not others “seems very shortsighted and very limited.”
An Unexpected Answer
In 2009, San Diego resident Jamie Tyrone had her DNA tested as part of a study that looked into whether people whose genes make them more likely to have a disease would change their lifestyles. Though she had a history of Alzheimer’s in her family, she was more concerned about multiple sclerosis.
Instead, she learned she carried two copies of the APOE 4 gene linked to Alzheimer’s — giving her strong odds that she’ll get the degenerative, currently incurable brain disease. She received the news with no counseling or warning. “Needless to say, I was not prepared for this information, nor did I welcome it,” says Tyrone, now 57. The news threw her “into a really deep depression,” during which she largely isolated herself.
A Positive Result With a Hopeful Ending
Is It Worth It?
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End of article. Cite: Matt Smith. Are Patients Ready for Direct-to-Consumer Genetic Testing? – Medscape – Mar 29, 2018.
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