Increasingly, genetic counselors are part of the health care team for those who have – or might have – a rare disease.
“We work with a lot of patients who are at the beginning of their diagnostic journey,” said Kelly East, a genetic counselor at HudsonAlpha Institute for Biotechnology in Huntsville, Alabama. “We have a lot of passion for people who are living with undiagnosed disorders.”
East was part of a panel presented by the National Organization for Rare Disorders (NORD) about genetic counseling for rare and undiagnosed conditions. You can watch the full webinar here.
Genetic counselors are health care professionals with specialized training to help families:
- Learn about genetics and the history of genetic disorders in families.
- Understand test and treatment options—and what comes next if a diagnosis isn’t immediately found.
- Access resources and support groups.
Melanie and Kevin Wu were referred to a genetic counselor by their pediatrician, who noticed their 3-month-old son Jonathan had brown spots on his skin. After receiving genetic counseling via telemedicine, Jonny underwent testing and was diagnosed with neurofibromatosis, or NF1, a rare genetic disorder in which tumors can develop in the nervous system, including the brain, spinal cord and nerves.
Getting a quick diagnosis allowed the Wus to connect with specialists and a clinic where Jonny is receiving care. The family also was linked to a support group. The Wus now feel they have a clear path going forward.
“We have the diagnosis, so we know what is going on with Jonny,” his father said.
It’s important to have counseling before testing so families can establish expectations, said Christine Maccia, a genetic counselor at the Rare Disease Institute at Children's National Hospital in Washington, D.C. Counselors can explain what the limitations of testing are. If there are multiple options, counselors can help guide parents in establishing the best testing plan.
“We frequently see families who are looking for research opportunities,” she said. “We also connect families who are new to a condition with families who have been living with a condition for quite some time. It brings a perspective that families really appreciate.”
People who know there are inherited diseases in the family often seek genetic counseling when they are contemplating starting a family. Genetic counselors do not make recommendations about future childbearing. Rather, they educate parents as to the risk of passing on their condition, Maccia said.
Depending on insurance plans and various clinics’ protocols, patients may need a referral for genetic counseling. A pediatrician might recommend genetic counseling if a child is not developing and achieving milestones as expected. For adults with chronic health problems, a primary care doctor might recommend genetic counseling if an illness could have a genetic link.
And while popular DNA sampling tests are helpful for finding long-lost relatives, they’re not recommended as a means of diagnosing possible genetic conditions, the experts said.
Looking for a genetic counselor? The National Society of Genetic Counselors offers a search tool to help families find providers in their area.