From FH to Mental Illness: The Evolving Role of Genetic Counseling

These are exciting times in the growing field of genetic counseling. While prenatal and preconception and cancer-risk counseling remain our bread and butter, clearly our skills and expertise can benefit infinitely many more people. Genetic counseling is a conversation that leads to action. People who have received genetic counseling say that they better understand their circumstances, feel empowered about their health, and are more proactive about decreasing their risks for diseases.

Several presentations at this year’s annual meeting illustrate how the reach of genetic counselors is expanding, such as by educating doctors and patients about familial hypercholesterolemia (FH), helping people with mental illness fully grasp the factors that cause the condition, and counseling transgender people about managing hereditary risk for breast and ovarian cancer.  

If there is a genetic connection for a condition, genetic counselors can help people understand its meaning, develop an actionable plan, and move forward in a proactive manner. In addition to mental illness, a significant number of common conditions are caused by a combination of genetics and environment, such as diabetes, heart disease and obesity. Many individuals are not aware of how genetics plays a role in these diseases and genetic counselors are the key to bridging this knowledge gap.  Research is constantly identifying genetic causes for countless health conditions and translating these discoveries into practical ways to reduce risk, if not prevent disease altogether.  When it comes to the partnership between our profession and the patients that we serve, the future is bright and the possibilities are endless.

Read on for more details about some of this year’s exciting presentations:

Few Doctors Check for Familial Hypercholesterolemia

Many primary care doctors don’t assess their patients for FH, a common but treatable genetic condition that puts people at a 20 times greater risk for early and aggressive heart disease, according to a University of Minnesota study. This reflects a knowledge gap about FH and who is at risk, and underscores the benefit of a multidisciplinary team approach to care that includes genetic counselors.

FH affects 1.2 million Americans, although fewer than 1 percent have been identified. The National Heart, Blood and Lung Institute and other groups recommend everyone be screened starting in childhood, which includes blood testing for cholesterol levels and/or asking about family history of heart disease. Yet according to results of a survey of 173 Minnesota physicians presented at the NSGC meeting, 30 percent said they do not screen their patients for FH and of those, 56 percent do not refer them to a specialist (such as a cardiologist) for screening. Also, only half were unaware that a patient with a father, mother, brother or sister with FH has a 50 percent chance of having it as well.

Patients with high cholesterol levels and a family history of heart disease are diagnosed with FH. Treatment includes anti-cholesterol medication, such as a statin therapy, and lifestyle modifications, including exercising, and maintaining a healthy diet and weight. Other treatments include medications to reduce cholesterol absorption and to increase the levels of good cholesterol. In general, individuals who are identified early and begin preventive therapies have excellent outcomes. Genetic counselors have an opportunity to play a role in educating other healthcare providers and advising them on processes that will allow them to identify at-risk patients and provide genetic counseling and testing.

Genetic Counseling Empowers People with Mental Illness

Genetic counseling can be empowering for people with mental illness, improving their outlook on life by giving them a new perspective to help them better understand and manage their condition, suggests a study from the University of British Columbia, Vancouver.

Previous quantitative studies have shown that genetic counseling can lead to positive outcomes for people with mental illness, helping them feel less self-stigma and more control. The authors of the new qualitative study interviewed 10 people with bipolar disease, schizophrenia, or schizoaffective disorder (a combination of schizophrenia and a mood disorder such as depression) before and after genetic counseling to better understand how counseling influences these outcomes.

During the genetic counseling session, the genetic counselor uses an analogy of a “mental health jar” to help people understand how various genetic and environmental factors can work together to fill up their jar and cause it to overflow, leading to an episode of mental illness. The mental health jar analogy also helps people better understand how to protect their mental health. Protective factors, such as getting adequate sleep, nutrition, and exercise, having a good support system and taking medications prescribed by a doctor, make a person’s mental illness jar larger, thereby it requires more to fill and overflow to result in illness.

The researchers said the genetic counselors listened to the individuals’ stories and addressed their questions in an empathetic, non-judgmental way. Participants felt the genetic counselor was trustworthy and knowledgeable, and engaged them in the counseling process, which validated their experiences with mental illness. It appears that the unique combination of information and support provided during genetic counseling produces an empowering effect so people feel more able to manage and talk about their mental illness.

Genetic Counselors Can Help Transgender Patients Understand Cancer Risks Associated with BRCA Mutations and Potential impact on Transition

Transgender individuals should be aware of their family history of cancer and any cancer-related gene mutations that run in their family as these factors may influence their choices regarding hormone treatment and gender-confirmation surgery, according to a presentation from genetic counselors from Dana-Farber Cancer Institute in Boston.

It is important for providers managing transgender patients to collect information about any family history of cancer and to refer them for genetic counseling if the history is concerning. Although there is limited research, taking female hormones may increase breast cancer risk in transgender women, especially those with a BRCA1 or BRCA2 mutation. Top surgery (removal of the breasts) in transgender men with these mutations may not decrease breast cancer risk as much as a risk-reducing mastectomy, as the procedures differ in the way they are completed in the operating room. Additionally, transgender men do not always have their ovaries removed as part of their transition, but would be encouraged to do so if they were found to carry a BRCA1 or BRCA2 mutation.

The presenters discussed their sessions with three transgender patients (two female-to-male, one male-to-female) who had a 50 percent or higher risk for carrying a BRCA1 mutation. One transgender male tested positive for a BRCA1 mutation and was educated about the risks of top surgery, as it would leave residual breast tissue that might remain susceptible to cancer. The genetics team counseled the patient regarding options, including continued screening for breast cancer or additional surgery to remove susceptible breast tissue.  This study demonstrates the importance of thorough genetic counseling for transgender patients and the importance of transgender-specific training for genetic counselors specializing in cancer.

These presentations are just a small sample of the exciting developments in the field of genetic counseling.  I am honored to be leading this organization in such exciting times as genetic counselors are expanding their breadth and depth in countless areas of medicine. 

Connect with a genetic counselor in your area using NSGC’s Find a Genetic Counselor tool.

Mary Freivogel, MS, CGC is President of the National Society of Genetic Counselors and Director of Clinical Service Lines at Invision Sally Jobe Breast Centers.

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