TN 10 (12-16)

DI 24515.079 Genetic Tests

Citations:

SSR 16-4p Titles II and XVI: Using Genetic Test Results to Evaluate Disability

A. Definition of genetic tests

Genetic tests use laboratory methods to detect genetic variations associated with a disease, condition, or genetic disorder. For SSA’s purposes, we will consider tests that analyze chromosomes, deoxyribonucleic acid (DNA), or ribonucleic acid (RNA) for identifying congenital genetic variations to be genetic tests. You may see genetic test results in medical evidence when making a disability determination or decision.

B. Types of genetic tests

Genetic tests can assist in predicting the extent of disease features or the risk of developing a certain disorder, aid in therapy, and provide useful information about the possible etiology of a claimant’s impairment(s). Evidence may include the following types of genetic tests:

  • Diagnostic tests may help confirm a diagnosis of a particular disorder.

  • Predictive tests can help determine if a person is at risk for developing a disorder in the future, even if a claimant has no medical signs or symptoms. However, even tests that are positive for a genetic variant associated with a particular disorder may not always mean a claimant will develop that condition.

  • Pharmacogenetic tests can help determine the best pharmaceutical therapy for a claimant’s disorder.

  • Reproductive tests can help determine if a parent is at risk of passing a disorder on to a future child or if a developing baby has a certain genetic condition.

C. How genetic variations relate to medical impairments

Even when a claimant has a genetic variant associated with or causative of a certain disorder, he or she may not always develop the disorder.

Consider the following factors to help determine the relevance of a genetic variant:

1. Penetrance

Penetrance describes the frequency with which people in a population with a given genetic variant actually display signs and symptoms of the associated disorder. Genetic tests often express penetrance as a percentage.

Complete penetrance indicates that all people in a population with the genetic variant will develop the disorder. Incomplete or reduced penetrance means only some people with the genetic variant will actually get the disorder. Incomplete or reduced penetrance is more common.

2. Individual risk or chance

Individual risk or chance is the probability that a person with a variant associated with a particular disorder will have the disorder.

D. Sources of genetic test evidence

Genetic tests may come from a medical source, genetic counselor or direct-to-consumer (DTC) provider.

There is currently little regulation and oversight of DTC testing, leading to concerns about such tests’ accuracy, reliability, and clinical relevance. Another concern about DTC tests is the potential “chain of custody” issue. By “chain of custody,” we mean that generally, with DTC tests, there is no way to ensure a given result is from any particular individual. For these reasons, DTC test results cannot establish a medically determinable impairment (MDI) even if an acceptable medical source (AMS) was involved with the testing or adopted the findings. Nevertheless, these tests can help corroborate allegations and other findings when consistent with other evidence in the file.

E. How we use genetic test results

Consider all medical evidence, including the results of genetic tests, when evaluating a disability claim. We consider genetic tests objective medical evidence.

1. Requirements for obtaining genetic test results

Request genetic test results when developing a claim for disability consistent with our policies in DI 22505.001 Medical Evidence of Record (MER) Policies. We do not require genetic test results to find a claimant disabled. We will not purchase genetic testing as part of a consultative examination.

2. Establishing an MDI

Genetic test results can help establish an MDI if it is from an AMS and not based on DTC testing. However, clinical signs and symptoms must be consistent with the MDI.

IMPORTANT: DTC test results cannot establish an MDI regardless of the endorsement or involvement of an AMS. See DI 24515.079D.

3. Meeting a Listing

Several listings include a discussion of genetic test results, for example listings 8.07A, 108.07A, 10.06A, 10.06B, 110.06A, and 110.06B. With the exception of non-mosaic Down syndrome, genetic test