Good Eyes, Good Genes?

What is Genetic Counseling?

Genetic CounselingAn emerging field of medical technology is Genetic Counseling. According to the World Health Organization, genetic counseling is the process through which trained professionals share knowledge about the genetic aspects of illnesses with an increased risk of either having a heritable disorder or passing it on to their unborn offspring. A genetic counselor provides information on the inheritance of diseases and their recurrence risks; addresses the concerns of patients, their families, and their health care providers; and supports patients and their families dealing with these illnesses (World Health Organization).

With significant advancements in understanding the complexities of the human genome, the role of genetic counseling has increased both in scope and importance. Many medical departments now employ genetic counselors to work alongside medical doctors and scientists to interpret test results and interface with and guide patients about how a genetic condition can affect them and their family members.

Benefits of Genetic Counselors

While many consider genetic counselors working primarily with families planning pregnancies or undergoing prenatal testing for genetic diseases, genetic counselors are essential in many other medical settings. The Department of Ophthalmology employs three genetic counselors that work with patients of all ages to help diagnose and understand diseases that cause vision loss. Patients who see a genetic counselor are often able to acquire more knowledge about their own illness, learn about options for treatment, including gene therapy, and help members of their families who may be at risk for the same condition. Some of the conditions that genetic counselors help patients navigate are:

  • Congenital/childhood cataracts
  • Optic nerve disease
  • Corneal opacities
  • Corneal dystrophies
  • Inherited retinal dystrophies

To learn more on genetic counseling, email research@eyeandear.org.

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