Genetic Counseling and Genetic Testing for Individuals with Leber Congenital Amaurosis

For Patients in Mexico

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.

Eligibility

  • The patient has a diagnosis of Leber Congenital Amaurosis (LCA)
    OR
  • The patient has childhood onset Retinitis Pigmentosa (RP), with onset of symptoms before age 10

Genetic Test Order Process

Genetic testing with an inherited retinal dystrophy gene panel will be completed by Molecular Vision Laboratory in Oregon, USA. To request a sample collection kit and place an order for genetic testing through this program, go to: www.molecularvisionlab.com/order-a-test. Please call 503-858-2674 or email jchiang@mvisionlab.com if you have questions about the genetic test order process.

Genetic Counseling

genetic counselor counseling patient via telephone

Post-test genetic counseling is provided at no charge to patients located in Mexico who are participating in this sponsored program. 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;
  • 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 and/or friends may participate in the call, regardless of geographic location.

Genetic Counseling Referral Process

  1. To refer a patient for genetic counseling please complete the consent form (EnglishSpanish) together with your patient at the time of sample collection. Then complete an online referral form and upload the signed consent to the referral.
  2. Include a copy of the consent with the sample collection kit.
  3. A patient care coordinator at InformedDNA will contact your patient to schedule an appointment to be conducted over the phone when results are complete. Interpreters are available, upon request.
  4. Molecular Vision Laboratory will send the referring provider and InformedDNA a copy of the result.
  5. The referring provider and the patient will receive a summary report and family tree diagram after the genetic counseling appointment is completed.

Please contact us via email or phone (1-888-308-1095) if you have questions about the genetic counseling services provided through this program.

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