What health questions should you ask newfound biological relatives?

 

If you’re considering one of the many direct-to-consumer genetic testing services, such as Ancestry.com or 23andMe, make sure you’re prepared for the unexpected. You may learn that a family member you’re close to isn’t actually related to you. You may learn that someone new is out there.

In addition to relationships, you’ll receive information about genetic indicators for disease risk. Don’t act on test results until you confirm them with an independent lab. Then, talk with your health care provider and seek a referral to a genetics counselor. There are multiple ways of looking at data, and your test results are only the beginning of the process of discovery.

The first question

I caution anyone trying these tests to realize that newly discovered relatives may not want a relationship. Consider making your first question: Are you interested in connecting? While it can seem hurtful if you want to know them better and they’re not interested, try to appreciate their surprise and don’t blame yourself.

If they’re interested in a becoming acquainted, let the relationship progress before asking the question that may interest you the most.

Would you be willing to share medical information?

Family history is a powerful tool for assessing risk factors for some diseases. Just as important as learning about a diagnosis is understanding the progress of the illness. If you have a family history of cancer or other serious disease, be aware of your relative’s age at diagnosis. If they have passed away, was their death from the disease or another factor? How old were they when they died?

What about genetic risk factors reported by the screening?

At the genetics counseling service at The Ohio State University Wexner Medical Center, we see many individuals who are trying to make sense of the results from direct-to-consumer screenings. Most of these companies look for the most common type of genetic variation among people, called single nucleotide polymorphisms, or SNPs (pronounced “snips”). Each SNP represents a difference in a single DNA building block, called a nucleotide. Most SNPs are normal DNA variations, with no health consequence. However, some SNPs may show an association with an increased risk for a certain condition, but it doesn’t necessarily mean you’re going to get that condition.

A paper published in Genetics in Medicine in 2018 reported that up to 40% of variance in SNPs in raw data from direct-to-consumer analysis were false positives. At the same time, if you’re aware of a cancer diagnosis in a family member—old or new—there are other factors to consider to determine if additional testing might be appropriate for you. SNP-based technology isn’t equivalent to the comprehensive genetic analysis done for the genes that we know are associated with increased cancer risk. And remember, a test result that shows a lack of a particular risk factor doesn’t mean you’re not at risk through other causes, like the environment, or lifestyle choices such as tobacco use.

Why should I want to know my risk factors?

People come into our clinic to better understand risk factors and how to manage disease issues. I’ve recently seen test results that offered patients the opportunity to watch for the development of a condition in order to mitigate the effects. One patient was diagnosed with a higher risk for a rare muscular disorder, and they’re now being monitored by a neurologist. A couple planning a pregnancy discovered that one of them is a carrier for hemochromatosis. This is a common condition that, in some cases, can cause late stage organ disease from iron deposits. It can be treated, so knowledge and preparation are key.

Some of our patients have been made aware of increased risks for breast cancer, ovarian cancer and prostate cancer among those with Eastern European Jewish ancestry. Discovering that risk factor can be a surprise if they didn’t have a family history.

What other diseases have genetic risk factors?

In addition to cancer risk, neurological disorders like Alzheimer’s disease have a genetic connection in a small number of cases. Learning of an increased risk can provide patients with the opportunity to prepare and seek early interventions.

The evolving world of direct-to-consumer testing is offering patients a fun opportunity to learn about genetics and explore risk factors. In some cases, it also offers a chance to expand their knowledge of their genetic health risks. Importantly, genetic counselors and other professionals can help patients put genetic risk factors in context with family history, along with environmental influences and personal health choices.

There’s still so much that we don’t know. Certainly, there are familial genetic risks for some diseases. Other changes in DNA that lead to increased risks could be caused by years of environmental influence, not merely heredity. Most important, if you try direct-to-consumer screening, please seek medical advice if you receive any surprising results.

Dawn Allain is a licensed genetic counselor and director of the genetics counseling graduate program at The Ohio State University Wexner Medical Center.