Genetic Tests & Disability

In Social Security Ruling 16-4p, the Social Security Administration provides basic information about genetic testing and how it evaluates genetic test results found in medical evidence.

Note that non-mosaic Down syndrome and xeroderma pigmentosum (for children and adults) are discussed.

Here is an excerpt from SSR 16-4p:

“Are genetic test results alone sufficient to make a disability determination or decision?

“With the sole exception of non-mosaic Down syndrome, genetic test results alone are not sufficient to make a disability determination or decision. A person may be found disabled based on meeting the criteria for non-mosaic Down syndrome in the Listing of Impairments (listings) under 10.06A and 110.06A, when this condition is documented by a karyotype report signed by a physician.  Genetic test results alone are otherwise not sufficient to make a disability determination; however, in two other medical listings, we use genetic test results as part of the criteria to evaluate whether a person's impairment meets the listing. [These listings are for xeroderma pigmentosum (8.07A and 108.07A), 20 CFR part 404, subpart P, appendix 1.] Additional evidence, including signs and symptoms of a person's impairment, is generally necessary to make a disability determination. As genetic testing continues to advance, we will consider appropriate changes to our program policy.”

Footnotes omitted.

See the full ruling at:
https://www.ssa.gov/OP_Home/rulings/di/01/SSR2016-04-di-01.html