What are the Pitfalls of Ignoring a Patient’s Family History

1. What are the Pitfalls of Ignoring a Patient’s Family History? 6 min read Hereditary Cancer By Deepti Babu, MS, CGC, Independent GenomeSmart Contributor As the understanding of genes and their impact on disease grows, so do the number and types of available genetic tests. Many of these tests are large multi-gene panels, some even targeted to a disease or phenotype, which gives them a ‘one-size-fits-all’ impression. Since these panels can efficiently and cost-effectively identify a hereditary underlying cause on their own, this begs the question – why bother to collect your patient’s family history information? Is anything gained from taking the time to do this? The short answer is yes, but here is a quick summary of reasons to consider: 1. Family history helps direct the right genetic test to order 2. Patterns in the family medical history may reveal risks beyond those which genetic testing can identify 3. Gathering family history engages patients and builds in space for them to consider genetic testing 4. If genetic testing is completed, family history can inform the next steps, particularly in the case of a negative (normal) result.  This website uses cookies to ensure you get the best experience on our website. Learn more Got it!

2. You Might Not Order the Right Test: Family History Helps Direct Genetic Testing As of 2018, almost 75, 000 genetic tests were available to order in the U.S., with more than 14 tests entering the market every day.1 Since many healthcare providers already find navigating genetic testing challenging, having more options – and at such a rapid pace – only compounds the problem. Knowing a patient’s family history can direct the genetic test to choose, particularly if the condition of concern is common (such as cancer). Family history information could suggest a specific hereditary syndrome, which might not be obvious in the patient alone. Considering the patient’s family history lowers the chance of him or her having the wrong genetic test, which reduces waste – particularly important if insurance coverage or other limits are a factor. This also helps ensure that the test ordered isn’t missing relevant genes, which could give the patient false reassurance if the test results are negative. If you’re choosing a genetic test and not considering the family history – before or after the test – you could be missing important signs of a hereditary condition that isn’t already on your radar. Example: Laurel has ovarian cancer and is being offered hereditary breast ovarian cancer (HBOC) gene panel testing, based on her diagnosis. However, she also has a history of colorectal cancer and uterine cancer in one side of her family, which makes Lynch syndrome a possibility. Therefore, Laurel could also be offered a Lynch syndrome gene panel. Without the family history information, Laurel’s Lynch syndrome testing might not get considered. Example: Lin is 24 years old and 8 weeks pregnant. She has genetic carrier screening based on her Southeast Asian ethnicity, which reveals all negative (normal) results. However, Lin has a brother with intellectual disability. Lin is at risk to be a carrier for fragile X syndrome and should be offered genetic screening to determine if she is a carrier for this condition that affects mostly males in a given family. Without examining Lin’s family history, her appropriateness for fragile X screening would be missed.

3. You Might Miss Things: Even Big Multi- Gene Panels Aren’t Comprehensive Broad panels can still miss relevant genetic findings in certain individuals, which means they are not actually ‘one-size-fits-all.’ This is because all genetic tests are only as good as current scientific knowledge allows, and only as comprehensive as the genes included in the panel -- which is typically not all genes associated with a possible diagnosis. Since disease-gene associations are constantly being discovered, even the broadest gene panel available today won’t include a disease-associated gene or variant that isn’t yet known. Good medical-grade genetic testing laboratories try to minimize the impact of this by reviewing and adjusting their testing regularly, but it’s just not possible to ‘know what you don’t know.’ If you include family history information when considering genetic testing options for a patient, this offers more data to refine the process. You Might Reduce Patient Engagement: Family History Involves Patients and Gives Them Time to Consider Genetic Testing Collecting family history information allows patients (and their families) to be actively involved in their health and disease risk assessment, which is something many of them want. Plus, family history data that patients and families provide is usually more accurate than what is in the medical record. The process of collecting a patient’s family history helps engage and educate them about the possibility of a hereditary condition in the family. Going through the process of risk assessment also gives breathing room to a patient as they decide on genetic testing, which can be complicated.

4. You Might Make Incomplete Medical Recommendations: When Genetic Test Results Are Back, Family History Impacts What You Do Next Most genetic test results come back negative or uninformative, but not all negative test results are equal. The patient’s family history can suggest a residual risk or different inherited possibility, which would be missed if family history data is not considered. Family history impacts the medical recommendations a healthcare provider makes, or perhaps even additional genetic testing to consider. Reviewing a patient’s genetic test results in the context of their family history is particularly important if their result is a variant of unknown significance (VUS). This is because a VUS does not usually impact medical management, so all you’re really left with for clinical guidance is based on the patient’s personal and family histories. So in the end, who needs a family history taken? Everyone. It is absolutely worth the time, considering what you lose by not collecting this valuable information. Family History Tips and Tricks Aim for three generations, focusing on close relatives (first- and second- degree relatives) If you can, document ages at diagnosis, overall health status, any exposures Take note of: Individuals diagnosed at a young age (such as diagnosed with cancer before age 50), on the same side of the family Multiple individuals with the same or similar diagnoses, on the same side of the family

5. Ethnicity, as some hereditary conditions are more common in specific ethnic groups Any biological relatedness between reproductive partners, as this might increase the risk for some hereditary conditions Watch out for:  Similar environmental exposures, which can lead to familial clustering of disease Diseases with incomplete penetrance or late-onset of symptoms, which can be masked in “healthy” individuals Early deaths due to non-medical causes, which can mask a disease presentation Let your patient lead the process, which increases accuracy and saves time  Online tools are available for gathering a family medical history Families can share what they compile with relatives, allowing them to update details over time (and share those with you) Sample Family History Guidance from Professional Medical Organizations Expert Statement from American Society of Clinical Oncology (ASCO): https://ascopubs.org/doi/pdf/10.1200/JCO.2013.50.9257 Committee Opinion from The American College of Obstetricians and Gynecologists (ACOG): https://www.acog.org/Clinical-Guidance-and-Publications/Committee-Opi nions/Committee-on-Genetics/Family-History-as-a-Risk-Assessment-Tool?I sMobileSet=false American Medical Association (AMA):

6. https://www.ama-assn.org/delivering-care/precision-medicine/collecting-fhttps://www.ama-assn.org/delivering-care/precision-medicine/collecting-f amily-history Sources 1 Concert Genetics. (2018). The Current Landscape of Genetic Testing [white paper]: https://www.concertgenetics.com/resources/2018-current-landscape-genetic-t esting/ Learn how we can help you accelerate revenue REQUEST A DEMO

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