Genetic Counseling and Genetic Testing for Individuals with Leber Congenital Amaurosis

Editas Medicine Inc. has partnered with InformedDNA to provide genetic counseling and genetic testing to patients with a childhood onset form of inherited retinal disease called Leber Congenital Amaurosis (LCA). Affected individuals are eligible to receive genetic counseling and undergo genetic testing.

Following testing, individuals who have a specific genetic variant in the CEP290 gene may be invited to participate in a clinical trial called BRILLIANCE, or enLIGHTen, a Natural History Study to chart the natural course of this condition.

BRILLIANCE is a clinical research study examining the effect of a CRISPR gene editing technology, called EDIT-101, on retinal degeneration associated with LCA10 (LCA due to mutations in the CEP290 gene). The enLIGHTen Natural History Study does not introduce an experimental therapy, but instead follows the natural course of disease without treatment.

Genetic Counseling

The genetic counselors at InformedDNA working on this program are highly trained in ophthalmology genetics. The genetic counselor will:

  • Collect medical history and a 3-4 generation family history;
  • Help to coordinate genetic testing;
  • Discuss the underlying genetics of LCA, the individual’s test results, and implications for personal health and risks to family members;
  • Help to identify which family members may be good candidates for genetic testing and possible screening for the BRILLIANCE study or enLIGHTen study.

Because our appointments occur over the phone, family members or friends may participate in the call, regardless of geographic location.

Healthcare Providers

  • Use our convenient online form submission process to refer your patient for genetic counseling.
  • Or, download this referral form and then fax the completed form to our Patient Care team (just follow the instructions on the form).
  • If you are a healthcare provider located in Mexico, then please use this link for information regarding the genetic test and genetic counseling process for international patients.

Patients and Caregivers

  • Use our convenient online form submission process to request an appointment for genetic counseling.
  • Or, call 888-308-1095 to speak with a member of our Patient Care team.

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