January 12, 2023

All About Genetic Counseling

Featured imageTwo women sitting at a table having a conversation
At the heart of genetic counseling is empowering patients and families with knowledge of genetic disease and being a supportive pillar as they navigate their journeys.

A genetic disease occurs when an individual has a harmful change, or mutation, in their DNA. Mutations that are known to cause or increase a person’s chance of developing a certain disease are also referred to as “pathogenic variants.” 

Genetic diseases can be caused by a mutation in one gene (“monogenic”), mutations in multiple genes (“polygenic”) or a combination of genetic mutations and environmental factors. Out of the 7,000+ rare diseases, about 80% of them are monogenic, or caused by a mutation in a single gene. Some of these diseases are caused by random, spontaneous mutations, while others inherited. There are multiple different types of inheritance patterns, such as autosomal dominant, autosomal recessive and X-linked.

For a person without specialized genetics knowledge, understanding one’s own personal or familial genetic risks can be challenging. Thankfully, there are specialists known as genetic counselors trained to help individuals and families at risk or affected by genetic diseases.

What is a genetic counselor?

Genetic counselors are healthcare professionals who work with individuals and families to empower them to understand how genetic information may impact their lives. This process is called genetic counseling. There are numerous genetic counseling specialties, such as prenatal, cardiology, cancer, and pediatrics. Genetic counselors may also work in different settings aside from patient interaction, such as consulting in a laboratory. 

How can a genetic counselor help?

A genetic counselor can help people understand and cope with complex genetic information. When it comes to rare diseases, affected families often face unique psychological and medical challenges. Genetic counselors play a critical role equipping rare disease patients and families with the resources they need. They may recommend patient groups and online patient-led networks to help patients and families find support and community.

Additionally, genetic counselors may work alongside and share their expertise with other healthcare providers on a patient’s care team and help coordinate care for patients.

Why might an individual or family see a genetic counselor?

An individual or family might see a rare disease genetic counselor for numerous reasons, including but not limited to:

  • Family history of a condition:
  • Undiagnosed after evaluations or a diagnosis is suspected
  • A family member(s) is recently diagnosed 
  • Planning to have children/during pregnancy
  • Physician’s referral
  • Abnormal test results or missed developmental milestones 
  • Positive newborn screening results

Genetic counselors can break down how family medical history and/or symptoms may indicate a certain rare disease, and discuss potential genetic testing options that can help reach a definitive diagnosis. If and when individuals/families undergo genetic testing, a genetic counselor will interpret the test results in a way that the individuals/families can understand, and work with the family to determine next steps, whether that be additional testing or finding a specialist. 

They can also help individuals or families understand and explain aspects related to rare disease such as genetic inheritance patterns and risk factors. Additionally, they can discuss family planning options with individuals and couples who are at risk of potentially passing a genetic condition to a future child.

Most importantly, genetic counselors are advocates for rare disease patients and families. At the heart of genetic counseling is empowering patients and families with knowledge of genetic disease and being a supportive pillar as they navigate their journeys. 

How can I find a genetic counselor?

To find a genetic counselor to meet with virtually or in person, check out the National Society of Genetic Counselor’s Find a Genetic Counselor tool.

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