Genetic testing for neurological diseases

Opinions

Аvera Allen, Deputy Editor In Chief

Date: 12.04.2021

 Invitae Corporation, a leading medical genetics company, today announced the availability of sponsored genetic testing for patients in the U.S., Canada, Australia and Brazil who are suspected of having or are at risk for developing some of the most common adult neurodegenerative conditions, including Parkinson's disease (PD), amyotrophic lateral sclerosis (ALS) and early-onset Alzheimer's disease (AD). The new program will make genetic testing available at no charge to individuals at risk for or suspected of having these difficult-to-diagnose conditions. Sponsored testing programs have been shown to increase access to genetic testing, which can help confirm a diagnosis, inform treatment and enable participation in clinical trials for patients.

"As a researcher and clinician working to provide patients and their families access to the genetic testing needed to get clear answers with actionable results, I've seen first-hand how important it is to continue expanding access to genetic testing for these devastating disorders," said Robert Nussbaum, M.D., chief medical officer of Invitae. 

There are strong genetic links to many neurodegenerative conditions, but in the past diagnosing these conditions relied only on clinical criteria and presenting symptoms alone, prolonging diagnosis. Genetic testing is emerging as an important tool in the early detection of neurodegenerative disorders. Earlier detection of a neurodegenerative condition can provide patients with the opportunity to receive early treatment that may help delay further progression of the disease.

Through the program, individuals aged 18 and over who are suspected of having or are at risk for developing ALS, PD or AD with onset under age 65 or hereditary prion disease may be eligible for no-charge testing. In addition to patients exhibiting symptoms, individuals who have a family history of early-onset disease (under the age of 65) are eligible for testing, as are family members of those with a known disease-causing variant covered by the program's testing. All testing is ordered through a clinician.

By Аvera Allen | Linkedin

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