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Genetic Testing

Earlier this year, Social Security Administration issued a policy interpretation ruling (SSR 16-4p) concerning the use of genetic tests in determining disability under the Social Security Act. This ruling, effective April 13, 2016, outlines the specific manner in which genetic tests are used throughout the sequential evaluation process.

Genetic testing is a type of medical test used by medical professionals to diagnose any of thousands of genetic disorders. The number and prevalence of genetic tests available for clinical use has become more commonplace in the healthcare industry and their use continues to grow. Although not required for a finding of disability, such testing may be particularly useful to disability applicants in proving they have a medically diagnosable severe impairment at step 2 of the sequential evaluation process.

Genetic test results alone are not sufficient to make a disability determination at step 3 in the process, with the exception of non-mosaic Down syndrome (Listings 10.06 and 110.06). Since genetic test results typically do not provide significant information about the severity of the medical impairment or the residual functional capacities, additional evidence supporting the inability to engage in substantial gainful activity is generally necessary.

While an Administrative Law Judge will consider genetic test results and maintains an independent duty to develop the evidence of record, Social Security Administration will not pay for genetic testing, nor order genetic tests in a consultative examination. The burden of proof remains on the claimant. Fortunately, "direct-to-consumer" genetic tests are more readily available and appear to be growing in popularity.

While there are tens of thousands of diagnoses currently listed in the International Classification of Diseases (ICD-10), genetic testing may not be proper in every situation. Consult your physician for advice on whether genetic testing is appropriate in diagnosing your particular medical condition.


SSR 16-4p

See HALLEX I-2-6-56

See http://www.cdc.gov/nchs/icd/icd10cm_pcs_background.htm

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