With November designated as Family Health History month, clinicians are sure to have seen lots of messaging encouraging their patients to discuss family health history around the holiday table. But what if there is no family history to be gathered?
There is no denying that elucidating the family health history can help you understand health risks for your patients or their children. However, as clinicians we’ve all heard variations on “I don't know my family history” many times over but we may not have known how to respond.
Reasons a family history might be difficult to obtain
Take Josh and Ashley, for example. They are a young couple who want to start their family, now that they are married and settled into a new city. Ashley was adopted as an infant and Josh is aware of many relatives in Poland but doesn't know anything about them. They never gave the lack of family health history much thought before. However, now that they are thinking about becoming parents they are concerned about risks for their future children.
There are many reasons why people don't have access to their family history information. Families may be out of touch due to immigration or estrangement. These factors may disproportionately affect individuals from historically underrepresented groups. Additionally, information may be limited if families are small, or unknown in families created through adoption or assisted reproductive technologies.
What are patients’ main concerns?
Concern for risks to children
Generally, individuals are aware that family history and genetics can impact the health of their children, as in the case with Ashley and Josh. This missing information can be worrying for some. Prenatal care often includes genetic testing. For patients concerned about genetic conditions they may pass on to their children, you can reassure them that most preconception and prenatal genetic testing is the same whether they are aware of family health history or not.
Concerns for future health risks
Often, when family history information is available, your first clue for increased risk may be that other members of the family have been diagnosed. You may see patterns of cardiovascular disease or cancer. Many patients have heard the messages about knowing your family history and may feel anxious when they know that information isn’t available to them. Family history is unquestionably recognized as an important piece of risk assessment, but it isn't everything. Additionally, current testing options can mitigate this to some extent.
What strategies can I use?
While it can be challenging to address these concerns, things you are already doing combined with new options in genetic testing can provide some strategies with these patients.
In cases where family history information is available, but not accessible due to estrangement or other issues, learning about future health risks or reproductive risks has the potential to motivate new family communications. Having a specific reason for contact may help a reluctant patient open the door to speaking with relatives. The prospect of trying to find relatives overseas may be daunting, but with a specific goal of empowering their healthcare decisions, patients may be more willing to dig into the detective work needed to obtain contact information.
Genetic counselors have expertise in facilitating these communications. Even when this isn't possible, a genetic counselor can help your patient identify appropriate test options and facilitate informed decision making about whether a genetic test is right for them.
Discuss screening options
In the prenatal setting, screening and diagnostic tests are available regardless of family history. Some of the most common genetic conditions seen prenatally are due to aneuploidy, e.g. Down syndrome, and these are rarely hereditary in origin. For those conditions that are hereditary, tests performed before or early in pregnancy can identify carriers of conditions recommended for screening by professional societies such as the American College of Obstetrics and Gynecology (ACOG). Historically, carrier screening was limited to a highly curated set of conditions within specific ethnic populations. As testing has evolved, laboratories offer larger panels that include more conditions across populations, and are available regardless of whether or not ancestry is known. Additionally, every state in the U.S. has newborn screening programs for significant health conditions, many genetic in origin, where early detection and treatment help prevent serious illness and disability.
Routine screening, calculators, tools and personal history
You can inform future disease risk without family history by relying on current health screenings that are standard of care. Think of mammography or cholesterol screening. Risk assessment tools for common conditions such as cardiovascular disease and cancer can be performed using widely available tools. The American Heart Association, for example, has a quick calculator incorporating risk factors such as smoking history, blood sugar, weight, cholesterol, etc. For breast cancer risk, the Breast Cancer Risk Assessment tool (aka the Gail model) incorporates personal history risk factors such as history of a breast biopsy showing atypia, personal history of LCIS, and reproductive history. Individuals at increased risk may have more intensive screening, such as colonoscopy at a younger age or more frequently. Additionally, if your patient has had cancer, certain diagnoses or pathology might indicate consideration of genetic testing.
Consider the benefits, limitations and type of test
Without family history information, patients may wonder if genetic testing can help to refine their risk. It is important to discuss the types of tests as well as the benefits and limitations.
Clinical genetic testing
Clinical genetic testing for disease risk may be considered even if patients do not have access to the family history information that might help them meet criteria for insurance coverage. These clinical tests may now be financially accessible, as costs have declined. Also, guidelines and criteria change frequently. Over time, your patient may end up meeting these criteria.
Patients who are thinking about genetic testing in a clinical setting should understand there are many tests available. Genetic experts are available to help them choose whether to proceed, and what might be an appropriate test. Supported decision making should include discussing that the results may be more difficult to interpret without family history context. Patients should also be aware that without that context, any finding could be a surprise. Reactions to unexpected health information varies, but we know being prepared for an unexpected result increases the likelihood of engaging in management recommendations.
Individuals without family history information may be interested in getting a better sense of their genetic make-up through DTC offerings but may feel a bit stranded or confused about whether DTC genetic testing can help address their health concerns. And it’s no wonder - several new genetic tests enter the market every day. Consumers should approach DTC tests carefully: the information provided may not be a complete assessment of genetic risk. Genetic counselors who specialize in this area can be a great resource for patients.
Some direct-to-consumer tests are starting to look more like the tests used in clinical settings. Some companies have processes that are CLIA- or CAP-certified and include assessment for some of the 73 genes related to conditions that the American College of Medical Genetics and Genomics (ACMG) recognizes as important. These are mainly related to hereditary cardiac and cancer predisposition, but also include metabolic and other disorders. Previously, these findings would be discovered during clinical evaluation with a genomic test such as exome testing. Now, consumer-initiated testing for these conditions is available to anyone.
Testing may not be provided with the support that has historically been included when ordered with the involvement of a genetic expert. If your patient is considering the DTC route, you can help them determine if the company offers genetic counseling or physician support.
Large scale genomic research projects
The prevalence of genetic conditions differs in different populations. Large genomic research projects, such as NIH’s All of Us program, have begun returning information related to traits and ancestry to participants. These ancestry variants are also being used to help interpret genomic data related to health conditions that may be prevalent in one population but not another. If Josh or Ashley learned this ancestry information, it is possible it may inform the screening approach for them.
While there are unique challenges to managing patients without family history information, you can discuss with them the many ways they can be proactive about their health. This may include facilitating conversations with relatives, genetic counseling, and of course ongoing screening and health assessments. Advances in risk assessment algorithms and better access to genetic testing is changing how we identify individuals at increased risk of hereditary disease. Individuals like Ashley and Josh, with limited family history information, have more options than ever for assessing health risks for themselves and their children. Thoughtfully exploring these options with your patients can reassure them that they are doing all they can to manage these risks. When they are interested in genetic testing, your support can help them balance the benefits and limitations of testing.
Resources for your practice
Expanded Carrier Screening in Reproductive Medicine (ACMG, ACOG, NSGC, et al)