New Virtual CMT Genetic Testing Program Seeks to Improve Access

A free webinar about the Charcot-Marie-Tooth Genie Project is set for Aug. 17

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by Mary Chapman |

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A collaboration between Genome Medical and the Hereditary Neuropathy Foundation has led to a virtual initiative that seeks to reduce genetic testing barriers for Charcot-Marie-Tooth (CMT) disease patients.

The new Charcot-Marie-Tooth Genie Project genetic testing program aims to provide the CMT community and its healthcare providers with quicker and more equitable access to critical genetic care.

Historically, there’s been a dearth of resources and educational efforts related to the importance and availability of genetic testing and counseling. There’s also been insufficient awareness about the importance of clinical trials and patient participation.

Genetic care has also been hampered by costs and by healthcare providers who hesitate to pursue genetic testing out of a perceived lack of federally approved therapies and difficulties in ordering and interpreting CMT tests, according to the foundation.

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“For so long, there’s been significant confusion around why and how to get genetic testing for CMT,” Allison Moore, HNF founder and CEO, said in a press release. “We’re thrilled to provide an accessible solution and one less barrier for our community.”

CMT is a group of inherited conditions of the peripheral nervous system that’s thought to affect about 126,000 U.S. residents and 2.6 million people around the world. It occurs when gene mutations affect nerves in the extremities, causing muscle weakness and reduced physical abilities.

It’s important to receive genetic confirmation at a young age so treatment can begin early to avoid possible toxicity from unnecessary therapies. In many cases, interventions such as physical and occupational therapy, proper nutrition, community and mental health support, and orthopedic devices such as leg or ankle braces can be beneficial if started early.

Genetic testing also may provide information about family planning since it can determine if people carry a certain CMT-causing mutation that could be passed on to their offspring. Testing can also rule out other conditions that affect nerve health.

The CMT Genie Project includes:

  • An online decision tool to answer common queries about genetic testing
  • An introduction to the HNF team
  • A telehealth consultation with a Genome Medical genetic counselor (Genome Medical is a genomic care delivery company powered by a digital health technology platform)
  • Convenient genetic testing paid for by insurance, cash, or through a sponsoring entity
  • A follow-up virtual appointment with a Genome Medical counselor so results can be reviewed and explained, and further care can be recommended, if necessary

The whole process is expected to take between three to five weeks. Through the project, genetic counseling will be offered to participants at a reduced price. The counselor will help participants select the least expensive test that meets their needs.

The HNF and Genome Medical will present a free introductory webinar about the program on Aug. 17 at 7 p.m. EST.