Progeny Spotlight: Empowering Families with Health History Insights

Thanksgiving has always been my favorite holiday–it is a time to gather around the table with family from near and far, to eat a delicious meal, and catch up on everyone’s accomplishments over the past year. Thanksgiving is also National Family Health History Day, so as we are enjoying another helping of mashed potatoes this year, why not take a moment to discuss something that could benefit our families for years to come? 

Discussing health topics can often feel challenging for patients, and sometimes these conversations are avoided, or only talked about in hushed tones. However,

having open discussions about family health history is incredibly valuable—and it could potentially save someone’s life! It’s critical that healthcare providers encourage and empower their patients to have these conversations and that healthcare teams then follow through by personalizing their patients’ care based on the family health history insights gleaned.

 

As a genetic counselor, I meet with individuals and families for a variety of reasons, but every conversation begins with taking a detailed family health history. Oftentimes, this information comes out as a storypeople share memories about their loved ones, detailing how a specific diagnosis affected other family members. 

During a genetic counseling session, I start by asking about family structurehow many siblings, children, aunts, and uncles they have, and the ages of family members. I also want to know who is living, and if any family members have passed away, at what age and from what cause. We also discuss known health diagnoses in the family.

In order to help me gather all of this information in a way that makes sense, I use Progeny.

Progeny is a medical and family history tool used by our team of genetic counselors and doctors to document and assess a medical and family history to support the genetic counseling and testing process.

 

Progeny helps us visualize family history through a pedigree, which illustrates family structure and size, and highlights the types of cancer and ages of diagnosis in a family. 

My goal when taking a family history is to look for patterns that might make us consider a genetic cause for disease. Using a pedigree makes it easier to identify patterns that may suggest a hereditary cancer syndrome. When I am assessing a family history for hereditary cancer risks in particular, I ask about cancer diagnoses, the age at which family members were diagnosed, or other indications of an inherited risk for cancer. For example, if there is a history of cancer diagnosed at a young age (younger than 50 years old), or if multiple relatives on the same side of the family have been diagnosed with the same type of cancer, this could be a sign genetic testing may be worthwhile. Other features could include early, unexplained death in the family or rare cancers (such as ovarian, pancreatic, and male breast cancers). When I meet with a patient and/or family, we review the pedigree together and discuss the risk assessment, identifying which cancers may be linked to a hereditary cancer syndrome, and which are less likely to be. We also document who in the family has undergone genetic testing, including the results (negative, positive, or uncertain). 

The pedigree created through Progeny becomes part of the medical record, providing other healthcare providers a visual representation of the family history. Progeny is a useful tool after genetic test results are available because the genetic test results, along with the medical and family history, can be used to run various cancer risk models.

 

Most of the time, genetic test results come back negative, or normal, meaning no inherited risk for cancer is identified. In these cases, the family history provides essential context for understanding a person’s health risks and can guide proactive management. For these patients, we can run risk models (including some that can be run through Progeny) to estimate a person’s lifetime risk for specific cancers, which takes into account both personal and family history. If necessary, individuals may be referred to specialists, such as a high-risk breast cancer doctor, to discuss increased screening options, such as the addition of a breast MRI based on their family history. This demonstrates that family health history is a powerful tool that can enable healthcare teams to assess whether early screening, increased monitoring, or even preventive measures may be beneficial for patients. 

Through the years as a genetic counselor, I have had many people tell me how much they appreciated being prompted to collect and share their family’s health history. They learned information they never knew about, and they often express surprise at how much of an impact it can have on their own health and how empowering it feels to have this knowledge. They realize that sharing this information not only benefits them, but can also help their siblings, children, parents and other relatives take their own necessary next steps to protect their own health. It might even inspire them to talk to their own healthcare providers, or seek genetic counseling if something in the family history stands out. At the end of the day, family history is a gift - one that can help guide not only your patient’s health decisions, but also the health of entire families. 

What are some ways a person can go about gathering this information? 

•    Remind them that the goal is not to make anyone feel uncomfortable, but to share valuable information that could potentially be used to prevent or detect conditions early. Encourage them to start with open-ended questions. They can ask about health history and encourage family members to share their stories. Ask about which types of doctors they have seen, and any health issues they have dealt with. This includes their siblings, parents, grandparents, and even extended relatives’ health.

•    Acknowledge that some topics might be sensitive and to do the best they can. Some relatives may not be ready to share everything, but even knowing basic information, such as the type of cancer diagnosed and approximate ages can be helpful. Encourage them to suggest family members to talk to their doctors and to a genetic counselor (like me!) if something in the family history raises concerns. This will allow them to learn if genetic testing or changes to their medical plans may be helpful for them.  Genetic testing can sometimes offer clarity and help us understand if there is an inherited risk for certain conditions. 

So this Thanksgiving, we should all take a moment to share our family health history—whether it's over the cranberry sauce or after dessert. We should also make it an annual conversation since family history changes over time. We just may have a conversation that could lead to healthier, more informed decisions for everyone. 

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