Home genetic testing raises more questions than answers

A reader recently wrote:

My [spouse] and I are 63 and childless. We are thinking of spending $99 to get genetic screening on the theory that it could help us plan a little better for our old age. Just as a random example, if I knew my chances for getting Alzheimer’s disease were high, I might want to move into assisted living sooner rather than later. We have many questions. Is this testing accurate? Does it raise more questions than it answers? What are the chances for our information remaining private in a real world where data leaks occur all the time? As a doctor, is this something you would consider for yourself?

Excellent questions.

Here are the answers:

  • Depends what you mean by “accurate”
  • Yes (actually: hell, yes)
  • Iffy
  • No way

Here they are in more detail.

Accuracy of genetic testing

We now have the technical capability of sequencing the entire genome of any given human. This is time-consuming, expensive, and not what commercially available genetic testing does. What they do is test for a panel of specific genes and gene variants. This they do “accurately”. What is still very much in the not-ready-for-prime-time phase is the relationship between those specific genetic variants and the emergence of actual, diagnose-able conditions like Alzheimer’s or diabetes. Even so, finding various genetic variants will never tell you that you will develop a certain disease; the best it can do is give probabilities. And even if those probabilities are high, it still can’t tell you when or how the condition will manifest.

Questions vs answers

Because all you’re going to get is probabilities, you’re always going to have more questions: When is the disease going to show up? How will I know it? Is there anything I can do to prevent or delay its onset? How about minimizing its impact? Again, the relationship between the presence of certain genes (or genetic variants) and specific diseases is far more fuzzy than Marketing will ever admit. The specific site you reference appears to be geared more toward ancestry and family genetics, so I wouldn’t even be sure of the specific utility of any given result, especially in the context of financial planning.

Privacy concerns

In general, my take on Internet privacy is what I call the YouTube rule: yes, anyone can see anything you put up, but because there’s just so much of it, as a practical matter, no one can find anything unless they’re actively looking for it. The other piece of this is that yes, anyone can find out anything they want about you if they really want to, but by and large, unless you’re George Clooney, no one really cares enough to do so. Then again, you may very well run into the problem of insurance companies coming across (or worse, requiring you to provide) the information and then using it against you, either in terms of refusing to issue a policy or affecting your premium. So yes, that’s a very real concern.

Would I spend the money to do this myself?

Absolutely not, and certainly not in the context of financial planning. My take on the current state of commercial genetic testing is that it provides no better medical information than a good family history. Are there situations when it may make some sense? Sure.  Adoptees with no access to medical information about their birth families may find it useful. Exploring one’s genetic heritage? Sounds like fun. But as a financial or estate planning tool? Worse than useless. My advice is to take the $99 and put it towards a good accountant or attorney with experience in end-of-life financial planning who will sit down with you and craft a strategy that makes sense for you.

Lucy Hornstein is a family physician who blogs at Musings of a Dinosaur, and is the author of Declarations of a Dinosaur: 10 Laws I’ve Learned as a Family Doctor.

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  • http://www.facebook.com/edmund.hayes.94 Edmund Hayes

    The company that this person is refering to has one of the largest DNA databaes in the country. This company has been featured in numerous publications and while it is not a crystal ball it does offer insight into many medical conditions, ancestry issues as well as it lets the user of thier service to participate in research initiatives.

    For 99 dollars it is a bargin and a great conversation piece at any party.

    • http://twitter.com/DinoDocLucy Lucy Hornstein

      But not a reliable resource for retirement financial planning.

  • http://www.twitter.com/alicearobertson Alice Robertson

    If the companies are giving us the information we paid for…then let it be…let patients get every bit of info they pay for and let them decide (and because technology allows it, let it be quick…like pronto…like the same time the doctor’s eyes hit it…we can discuss later if we desire the doctor’s counsel). The medical community needs a type of Wikileaks and OpenNotes available everywhere to every patient. Information is powerful even when it’s terrible news (I have a tainted opinion because a doctor at Cleveland Clinic didn’t even read my daughter’s lab notes and told me all was well…it wasn’t…she had cancer and we lost eight months of time because the doctor didn’t read the lab notes that said the slide arrived to dry to culture….so I am all for patients getting the lab notes…any flamin’ note that concerns them). Doctors and patients are fallible human beings, so let the sun shine on ALL info, lets just worry that it’s correct not that it’s available.

    The insurance company getting the info isn’t a worry and the writer of this article has to know that. You can sign up anonymously and get your genetics testing done. You get an ID number, anyone who has read up for five minutes on the topic knows this because it’s a really nice plus to know it’s your information whether your name is on it or not.

  • katerinahurd

    Facts: Physicians are not familiar with statistics. Human suffering seeks for a cause and a cure of disease. Do you agree with these facts? If yes, why did physicians support the mapping of the human genome. Do you think that their support was due to the fact that they could identify the cause of a disease, but not correlates of gene segregation? Do you agree that home genetic testing poses a conflict of interest between the informed patient and the patient who would seek an answer via a visit to the physician?

  • aparna immidisetti

    very infor