Reducing Genetic Testing Barriers for the Charcot-Marie-Tooth Community

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The CMT community has historically lacked education and resources around the importance and availability of genetic counseling, genetic testing, clinical trials and research participation.

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Business Wire, Inc.Business Wire, Inc.
Retrieved on: 
Tuesday, August 9, 2022
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Health, Genetics, Other Science, General Health, Research, Science, Biotechnology, CMT, Neurotoxicity, HNF, Genetic testing, Gene, Vitamin, Industry, Drug discovery, Mental health, Precision medicine, CEO, Diagnosis, Cedars-Sinai Medical Center, Research, Pain, Goldman Sachs, Occupational therapy, Peripheral neuropathy, Government, Human, Health, Patient, Quality of life, Sensation, Education, Partnership, Drug development, Awareness, Rock Health, Fenwick & West, Confusion, Acupuncture & Electro-Therapeutics Research, Genetics, Insurance, Hypoesthesia, Digital, Scene, Genetic counseling, LCGC, Charcot–Marie–Tooth disease, Medicine, Vaccine, Pharmaceutical industry
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UNITED STATES, NORTH AMERICA, NEW YORK
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Organisation: 
HEREDITARY NEUROPATHY FOUNDATION, GENOME MEDICAL
Summary
Key Points: 
  • The CMT community has historically lacked education and resources around the importance and availability of genetic counseling, genetic testing, clinical trials and research participation.
  • These providers are often hesitant to pursue genetic testing, due to a perceived lack of approved treatments and discomfort surrounding test ordering and interpretation.
  • Through the CMT Genie Project, genetic counseling will be offered to participants at a reduced price, and the genetic counselor will help participants choose the most cost-effective genetic test that meets their needs.
  • For so long, theres been significant confusion around why and how to get genetic testing for CMT, says Allison Moore, founder and CEO, HNF.


In partnership with Genome Medical and Tara A. Jones MS, LCGC, at Cedars-Sinai Medical Center, the Hereditary Neuropathy Foundation (HNF) has developed the Charcot-Marie-Tooth (CMT) Genie Project — a strategic genetic testing program that will provide faster and more equitable access to critical genetic care for the CMT community and their health care providers.

CMT is an inherited, progressive condition that occurs when mutations in the genes affect the nerves in the feet, legs, hands and arms.

The CMT community has historically lacked education and resources around the importance and availability of genetic counseling, genetic testing, clinical trials and research participation. Other barriers to genetic care have included cost restrictions and uninformed health care providers. These providers are often hesitant to pursue genetic testing, due to a perceived lack of approved treatments and discomfort surrounding test ordering and interpretation.

Through the CMT Genie Project, HNF (CMTGenie.org) has developed a virtual solution while spotlighting the top reasons to pursue genetic testing:

  • Early interventional care
  • Clinical trial and research participation
  • Family planning
  • Anticipating the future

The CMT Genie Project includes the following virtual services:

  • An online decision tool to answer the most commonly asked questions about genetic testing
  • An introduction with the HNF team
  • A telehealth consultation with a genetic counselor from Genome Medical, a nationwide independent medical practice focused on genetics and genomics-based care
  • Convenient genetic testing ordered through insurance, cash pay or a sponsored panel
  • A follow-up virtual appointment with a Genome Medical genetic counselor to review and understand the test results and get recommendations for additional care if needed

The entire process can take as little as three to five weeks. Through the CMT Genie Project, genetic counseling will be offered to participants at a reduced price, and the genetic counselor will help participants choose the most cost-effective genetic test that meets their needs.

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

HNF will host an introductory webinar about the CMT Genie program with Genome Medical at 7 pm ET on Wednesday, Aug. 17. Registration is open and free.

Why access to genetic testing for CMT is critical

Genetic confirmation of CMT is imperative at an early age to avoid potential risks and begin beneficial early interventions. Without genetic confirmation, patients may unknowingly be prescribed neurotoxic drugs (some as common as antibiotics, vitamins and antidepressants), which can lead to loss of muscle strength, sensation, mobility and additional symptoms including pain, numbness and unpredictable complications. It may take years before the permanent and accelerated decline is associated with a neurotoxic drug. Due to the progressive nature of CMT, early interventions such as bracing, physical and occupational therapy, proper nutrition, and mental health and community support can have a positive impact and, in some cases, slow the progression of comorbidities and loss of function.

For more information on the CMT Genie Project, contact Estela Lugo at (212) 860-5405 or [email protected].

About Hereditary Neuropathy Foundation

Hereditary Neuropathy Foundation (HNF) is a non-profit 501(c)3 organization whose mission is to increase awareness and accurate diagnosis of Charcot-Marie-Tooth (CMT) and related inherited neuropathies, support patients and families with critical information to improve quality of life, and fund research that will lead to treatments and cures. HNF developed the Therapeutic Research in Accelerated Discovery (TRIAD) as a collaborative effort with academia, government, and industry to develop treatments for CMT. Currently, TRIAD involves many groups that span the drug discovery, drug development, and diagnostics continuum. HNF is actively committed to increasing awareness and accurate diagnosis of CMT and related inherited neuropathies. Significant projects include the production of the documentary “Bernadette“, publication of a series of children’s books, Arlene On the Scene and Arlene the Rebel Queen, and quarterly CMT Update Newsletters. HNF supports patients and families with critical information to improve quality of life and is dedicated to finding treatments for CMT. We provide a strong, organizational voice to those living with CMT worldwide.

About Genome Medical

Genome Medical, the leading genomic care delivery company, is personalizing health care for all through on-demand access to genetic insights and genomic medicine. We operate as an independent virtual medical practice, powered by a digital health technology platform. By partnering with health systems, providers, health plans, employers, labs and biopharma, we expand the reach and impact of precision medicine. We provide clinical assessments and tools, test recommendations and ordering, and personalized care plans to deliver optimal patient care and improve health outcomes. The company, which is headquartered in South San Francisco, has been honored as “The Best Digital Health Company to Work For” by Rock Health, Fenwick & West and Goldman Sachs in their “Top 50 in Digital Health” awards. To learn more, visit genomemedical.com and follow @GenomeMed.

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