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:
“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
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