All About Genetic Counseling

By
Bissaya Abdella
Jan 12, 2023 • 3 min read

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 are 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.

We know that every person's story is unique and deserves to be heard.

1. Build a support network.

When you’re juggling appointment times and insurance claims, putting a robust support system together might not strike you as the most urgent task. Investing the time to cultivate relationships with people can turn to in times of need will pay dividends. The next time you need a last-minute ride or just someone to listen, you won’t be on your own.

There are many condition-specific support groups and support groups for caregivers generally in person or online. In addition to the encouragement and empathy they provide, support groups can be a helpful source of tips, resources, and recommendations for navigating caregiving.

2. Stay organized.

The backbone of effective caregiving is organization. Keep medical information, appointment schedules, and medication lists in order. Use a planner or a digital service like PicnicHealth to stay on top of your responsibilities. This attention to detail can prevent future complications and reduce day-to-day stress.

3. Explore treatments and clinical trials.

We’ve seen incredible breakthroughs in treatment over the past couple of years, powered by patients and their caregivers participating in research. Stay in the loop about the latest in medical advancements and available resources that could benefit your loved one. Whether it’s a new therapy option or a community service that aids independence, being informed can make a world of difference in the quality of care you provide.

4. Make time for self-care.

It may seem self-centered to focus on self-care—but when you feel good, you can be a better caregiver. Whether it’s exercise, a mindfulness practice, a soak in the bath, or just time to rest when you need it, carve out those moments in the day when you can unwind, reset, and stay healthy mentally and physically. Think of it as building up your reserves of kindness, patience, and understanding—which can only benefit your loved one. No one can pour from an empty cup.

Having trouble managing your loved one's medical records?

Easily manage all of your loved one's medical records and contribute to ongoing Alzheimer's research with PicnicHealth.