Planning for Wellness With 23andMe

After spending 15 years as a primary care physician, Dr. Mark Costa wanted a better way to practice medicine, one that gave him more time with each of his patients.

So the Boston area physician and his wife, Marilyn Chown, a medical researcher and nurse, opened a small medical practice of their own. The idea was that it would be large enough to sustain itself as a business, but not so big that he didn’t have time to get to know his patients and their problems.

Instead of a stacked patient-load that left them rushing from one case to another, their concierge practice limited the number of people they treated. This gave the couple time to tailor wellness plans for the people they treated.

“It’s a little bit more of the old family doctor routine,” Dr. Costa said.

With each patient, he and his wife delve into their medical chart; they look through their charts and even the person’s home and work life. Although family medical history is considered a cornerstone, Dr. Costa said most people don’t remember those details well. Many patients can’t give him accurate information about their family medical history, he said.

“It’s often extremely vague or misleading,” Dr. Costa said.

So at some point, his wife suggested looking at getting genetic tests done as a way to fill in the gap.

“There is a lot of evidence that, interpreted correctly, genetic testing can be extremely powerful,” he said. “Traditional medicine is very reactive. You come in with symptoms, a diagnosis is made, and treatment is made. With genetic testing, you can be more proactive. You can pick up diseases earlier and you might be able to prevent them.”

He and his wife have started incorporating the test into their practice and they’ve already seen a handful of patients benefit from the test.

In one case, learning of a woman’s higher risk for Celiac Disease, lead Dr. Costa to order some routine blood test that confirmed she had the disease. A simple change in her diet helped alleviate the symptoms. In another case, he found that a patient showed a markedly higher genetic risk for sickle cell and in another a patient showed a higher risk for clotting.

“Overall, incorporating 23andMe into my practice has definitely helped me serve my patients better, in a more thorough and complete fashion.”

Results vary due to unique differences in each individual’s DNA. On average, users receive at least one or two results that may help with proactively managing health. 23andMe’s services are NOT a substitute for professional medical or diagnostic advice.

Editor’s note: Pending an FDA decision, 23andMe no longer offers new customers access to health reports referred to in this post. Customers who purchased prior to November 22, 2013 will still be able to see their health reports, but those who purchased after that time will not. Those customers will have access to ancestry information as well as access to their uninterpreted raw data.

  • Derek

    As an MD who works in a community health services, I do not perform genetic testing often. However, genetic information, through historical and familial thinking, is the basis of every decision I make. Sure, I would love to have more time with my patients, and it would be nice to be able to do every test under the sun, especially when indicated. Truth is, genetic testing is so rarely indicated in primary care: Celiac disease patient mentioned, did not need genetic testing: she just needed to be asked appropriate questions, i.e. to have her family history taken. Knowledge of genetics is qua non when practicing contemporary medicine. Preventive medicine is exciting, but to do it well, one so rarely needs genetic testing. Or am I missing something?

  • Dr. Mark Costa

    Excellent article and video! With wellness as a priority at Enhanced Medical Care, we see tools such as 23andMe as an excellent way to promote health in the clinical setting based upon a scientific road map.

  • Jeanette

    Many people are the first in their family to be diagnosed with celiac or gluten allergy. The genetic testing can be very helpful, even in the presence of family history.

  • Jacob

    I recently joined the sight but I have to say props to you Dr. Costa. You want to help people and be deeply connected as many doctors should have a connection with their patients. Genetic testing right there being used in the right way.

  • Catherine

    As a doctor, I can say that it really isn’t “just that easy” to diagnose Celiac disease. There are many, many causes of chronic abdominal pain and often the patient can’t seem to find a strict association. Usually the test will be done eventually if they have repeat visits for abdominal pain or they give a good history, but like many diseases, genetic testing is only ordered if there is a strong suspicion based on history and symptoms.

    I think genetic testing is great in a couple of situations that insurance companies don’t recognize as “medically indicated”.

    First, either the patient can’t give a good family history (especially adoptees), is an unreliable historian (mental illness, developmental delay) or has a disjointed family history (quite a few of my patients know almost nothing about their father’s family). Second, the patient has the money to be screened for medication interactions and/or relatively rare disorders (I’m in Emergency Medicine and it is very valuable to know if a patient is a high risk for clotting due to the risk of pulmonary embolism/DVT. You would also avoid giving estrogen containing contraceptive pills to this patient). Insurance companies can’t afford to blanket screen populations for these risks because they are relatively uncommon. At 99$, I think it is worth the cost to know. And third, a patient may know their suspected risk, but wants to know their specific risk for a disease. An example would be Alzheimer’s. Insurance companies don’t generally cover the cost of genetic testing for a risk factor that doesn’t specifically change management. I think it’s important for patients to know if they are actually at higher risk for these diseases and to get involved in prevention efforts and research studies that can hopefully change the disease course. As a passionate researcher, I think the value of identifying patients at risk and motivating them to help find a cure or to contribute to research to better understand their particular disease could fundamentally reshape medicine.

  • Catherine

    Just in reference to the above, I hope 23andme will take a more active role in linking clients identified to be at risk for a disease to information on registries and clinical trials. I worked in research on Primary Ovarian Insufficiency (early onset menopause) at the NIH and it is so valuable to have patients that agree to be part of a cohort study (patients we follow over time). It often takes years before our patients find out that we have a specialty division at the NIH Clinical Center that studies this disease and it took decades to assemble a cohort large enough to publish data on. For rare diseases especially it is so important that we get patients involved and encourage them to advocate for better research and possible treatments. An example, a galactosemia patient and family support group contacted our research unit and asked if we would research why girls with galactosemia suffer early onset menopause. With their support, we took on this interesting topic that we would have never researched before and were able to collect funding to help it advance. Patients have enormous power to make their government research units work for them if they take the initiative. They can’t do this if they don’t know that we exist! :)

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