[Federal Register Volume 81, Number 71 (Wednesday, April 13, 2016)]
[Notices]
[Pages 21944-21949]
From the Federal Register Online via the Government Publishing Office [www.gpo.gov]
[FR Doc No: 2016-08467]


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SOCIAL SECURITY ADMINISTRATION

[Docket No. SSA-2015-0061]


Social Security Ruling, SSR 16-4p; Titles II and XVI: Using 
Genetic Test Results To Evaluate Disability

AGENCY: Social Security Administration.

ACTION: Notice of Social Security Ruling (SSR).

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SUMMARY: We are giving notice of SSR 16-4p. This SSR explains how we 
consider the results of genetic tests in disability claims and 
continuing disability reviews under titles II and XVI of the Social 
Security Act, consistent with our policies for determination of 
disability.

DATES: Effective Date: April 13, 2016.

FOR FURTHER INFORMATION CONTACT: Dan O'Brien, Office of Disability 
Policy, Office of Vocational Evaluation and Process Policy, Social 
Security Administration, 6401 Security Boulevard, Baltimore, MD 21235-
6401, (410) 597-1632. For information on eligibility or filing for 
benefits, call our national toll-free number 1-800-772-1213, or TTY 1-
800-325-0778, or visit our Internet site, Social Security online, at 
http://www.socialsecurity.gov.

SUPPLEMENTARY INFORMATION: Although 5 U.S.C. 552(a)(1) and (a)(2) do 
not require us to publish this SSR, we are doing so under 20 CFR 
402.35(b)(1).
    Through SSRs, we make available to the public precedential 
decisions relating to the Federal old-age, survivors, disability, 
supplemental security income, and special veterans benefits programs. 
We may base SSRs on determinations or decisions made at all levels of 
administrative adjudication, Federal court decisions, Commissioner's 
decisions, opinions of the Office of the General Counsel, or other 
interpretations of the law and regulations.
    Although SSRs do not have the same force and effect as statutes or 
regulations, they are binding on all components of the Social Security 
Administration. 20 CFR 402.35(b)(1).
    This SSR will remain in effect until we publish a notice in the 
Federal Register that rescinds it, or we publish a new SSR that 
replaces or modifies it.

(Catalog of Federal Domestic Assistance, Program Nos. 96.001, Social 
Security--Disability Insurance; 96.002, Social Security--Retirement 
Insurance; 96.004--Social Security--Survivors Insurance; 96.006 
Supplemental Security Income.)


    Dated: April 6, 2016.
Carolyn W. Colvin,
Acting Commissioner of Social Security.

POLICY INTERPRETATION RULING

Titles II and XVI: Using Genetic Test Results To Evaluate Disability

    PURPOSE: This SSR explains how we consider medical evidence 
containing the results of genetic tests and helps adjudicators, 
including disability examiners and medical and psychological 
consultants, consistently apply our policies in disability claims.\1\
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    \1\ For simplicity, we refer in this SSR only to initial claims 
for disability benefits under titles II and XVI of the Social 
Security Act (Act). However, the policy interpretations in this SSR 
also apply to continuing disability reviews of adults and children 
under sections 223(f) and 1614(a)(4) of the Act, and to 
redeterminations of eligibility for benefits we make in accordance 
with section 1614(a)(3)(H) of the Act when a child who is receiving 
title XVI payments based on disability attains age 18.
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    CITATIONS: Sections 216(i), 223(d), 223(f), 1614(a)(3) and 
1614(a)(4) of the Social Security Act, as amended; 20 CFR part 401; 20 
CFR 401.55, 404.1505, 404.1508, 404.1512, 404.1513, 404.1519a, 
404.1519m, 404.1520, 404.1520b, 404.1527, 404.1528, 404.1529, 404.1545, 
416.905, 416.906, 416.908, 416.911, 416.912, 416.913, 416.919a, 
416.919m, 416.920, 416.920b, 416.924, 416.924a, 416.926a, 416.927, 
416.928, 416.929, and 416.945; and 20 CFR part 404, appendix 1.
    INTRODUCTION: In all claims for disability, we need objective 
medical evidence to establish the existence of a medically determinable 
impairment (MDI). Genetic test results sometimes are a part of this 
objective medical evidence and can also be of value at other points in 
the sequential evaluation process. In this ruling, we provide basic 
information about genetic testing and clarify how we apply our policies 
when evaluating genetic test results found in the medical evidence of 
record (MER).
    POLICY INTERPRETATION: We consider all medical evidence, including 
genetic test results, when evaluating a claim for disability benefits. 
The information that follows is presented in question and answer format 
and provides details about medical genetics and how to consider MER 
containing genetic test results under our disability policy. Questions 
1 through 3 provide basic background information about genetic tests 
and their use in the medical setting. Question 4 discusses the 
relevance of genetic test results to our disability program. Question 5 
discusses whether genetic test results alone are sufficient to make a 
disability determination. Question 6 clarifies that we do not purchase 
genetic testing. Questions 7 through 11 specify how adjudicators should 
handle evidence containing genetic test results at various points of 
the adjudication process. Question 12 addresses our policy on the 
disclosure of genetic information.

List of Questions

1. What is genetic testing?
2. How do genetic variants relate to medical disorders?
3. Why do medical professionals order genetic tests?
4. Why are genetic tests relevant to us?
5. Are genetic test results alone sufficient to make a disability 
determination or decision?
6. Will we purchase genetic testing by way of consultative 
examination (CE)?
7. Do we consider medical evidence that includes the results of 
genetic tests?
8. Do we require genetic test results to find a claimant disabled?
9. Who typically provides genetic test evidence?
10. Can we consider genetic test results in the sequential 
evaluation process?
11. If a person is found disabled, can we use genetic test results 
when setting a diary for continuing disability review (CDR)?
12. What is our policy regarding the disclosure of the results of 
genetic tests?

Answers

1. What is genetic testing? \2\
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    \2\ For help with the definitions of the terms and concepts 
related to genetic testing in this SSR, see the National Human 
Genome Research Institute (NHGRI) Talking Glossary of Genetic Terms, 
available at http://www.genome.gov/glossary/index.cfm.
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    Genetic testing is a type of medical test that identifies 
variations in genetic

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material. Genetic testing uses laboratory methods to detect genetic 
variations associated with a disease, condition, or genetic disorder. 
For the purposes of this ruling, we will consider tests that analyze 
chromosomes, deoxyribonucleic acid (DNA), or ribonucleic acid (RNA) for 
the purpose of identifying congenital genetic variations to be genetic 
tests.\3\ Different types of laboratory tests constitute genetic tests. 
For example, karyotyping, which counts and examines the appearance of 
chromosomes in a cell, is a type of genetic test. Some other types of 
genetic tests read and evaluate the sequence of the nucleotide bases 
that make up a DNA molecule or examine changes at one specific place in 
the genome. Differences from the normal (or reference) sequence are 
known as mutations or variants. Variants also encompass partial or 
complete loss or gain of gene copies.
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    \3\ Clinicians may perform gene expression profiling for certain 
types of malignant tumors to gather information for cancer 
treatment. We do not consider such tests in this SSR.
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2. How do genetic variants relate to medical disorders?

    People generally have two copies of every gene in their body, one 
contributed by their biological mother, the other contributed by their 
biological father. Some disorders are caused by a variation in a single 
gene. In certain cases, having a variation in just one of the two 
copies of the gene is enough to lead to a disorder. If a variant's 
occurrence in only one copy of the gene is sufficient for a person to 
develop the disorder, the disorder is dominant. The disorder is 
recessive if an associated variant must occur in both copies of the 
gene for a person to develop the disorder.
    Even when a person knows that he or she has a genetic variant 
associated with or causative of a certain disorder, he or she may not 
always develop the condition. Penetrance is the term that describes the 
frequency with which people in a population with a given genetic 
variant actually display signs and symptoms of the associated disorder. 
It is often expressed as a percentage. Complete penetrance indicates 
that all people in a population with the genetic variant will develop 
the disorder. Incomplete or reduced penetrance, which is far more 
common, means that only some people in a population with the variant 
will actually get the disorder. The probability that a given person 
will have a disorder given that they have the variant is known as risk 
or chance.
    Variants can interact either with one another or with environmental 
influences (such as ultraviolet light, diet, or smoking) to result in a 
disorder. These types of disorders are called complex or multifactorial 
disorders. Even when genetic variants associated with complex disorders 
are known, it may be difficult to determine the risk of developing such 
disorders based on genetic test results. For example, changes in a 
person's exposure to relevant environmental influences can modify the 
risk of developing a disease or the severity of a genetic condition.
    Chromosomal abnormalities can lead to disorders as well. A 
chromosome is an organized package of DNA located in the nucleus of a 
cell. People generally have 2 copies of each of 23 chromosomes in their 
cells. Aneuploidy means an incorrect number of chromosomes. Down 
syndrome is an example of a genetic disorder caused by aneuploidy. It 
is the result of a person having an extra copy of chromosome 21 in some 
or all of his or her cells. A defect in a chromosome's structure may 
also cause a genetic condition. Cri du chat syndrome is an example of a 
disorder that results from a structural chromosomal abnormality. It is 
due to one chromosome 5 missing a part.

3. Why do medical professionals order genetic tests?

    Like other laboratory tests or procedures, genetic tests can help 
medical professionals diagnose a particular disease or disorder. They 
assist in predicting the extent of disease features or risk of 
developing a certain disorder, aid in therapy, and provide useful 
information for reproductive purposes.
a. Diagnostic Tests
    Medical professionals may use genetic tests to diagnose a 
particular disorder. They will usually order or perform these tests 
when a person has medical signs or symptoms consistent with that 
disorder and a link between specific genetic variations and the 
disorder is well-characterized. They may also use testing when a 
disorder is present but unrecognized (or undiagnosed) to work through a 
list of possibilities, i.e., differential diagnoses. Such tests are 
known as diagnostic genetic tests. Hemochromatosis is an example of a 
disease for which medical professionals use a diagnostic genetic test 
to help confirm a diagnosis.\4\
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    \4\ See the Genetics Home Reference page for hemochromatosis 
available at http://ghr.nlm.nih.gov/condition/hemochromatosis.
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b. Predictive Tests
    A person might choose to have a genetic test even if he or she does 
not have medical signs or symptoms indicative of a disorder. Instead, 
he or she may undergo testing to find out whether he or she has a 
genetic variant that might put him or her at risk for developing a 
disorder in the future. This type of test is a predictive genetic test. 
A positive predictive test result may result in a pre-symptomatic 
diagnosis of a genetic condition, or just knowledge of an increased 
risk of developing that condition. Examples of predictive genetic tests 
are those looking for variations in the genes BRCA1 and BRCA2, which 
assess a person's risk for certain inherited breast and ovarian cancer 
syndromes.\5\
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    \5\ See the National Cancer Institute, at the National 
Institutes of Health's, discussion of BRCA1 and BRCA2, available at 
http://www.cancer.gov/cancertopics/pdq/genetics/breast-and-ovarian/HealthProfessional/page2.
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    It is important to note that, for many conditions, predictive 
genetic tests cannot tell with certainty whether a person will develop 
a disorder. The results of predictive genetic tests generally give a 
probability or range of probabilities that a disorder will eventually 
develop in the person being tested. Predictive genetic tests also 
generally cannot tell a person precisely how the disorder will affect 
him or her. Many times, predictive genetic testing is most helpful when 
a person has a known family history of a disease, and not knowing the 
disease risk would lead to serious consequences. A person may choose to 
undergo predictive genetic testing to make decisions about future 
medical care or to implement lifestyle changes to help mitigate 
potential risk for adverse health effects.
c. Pharmacogenetic Tests
    Medical professionals might order pharmacogenetic tests for a 
patient who needs to receive pharmaceutical therapy for his or her 
disorder. The information from this kind of genetic test can help 
medical staff understand how a patient may react to a particular drug 
and assist in selection of the safest, most effective type and dosage 
of medicine for that specific person.
d. Tests for Reproductive Purposes
    There are genetic tests that people obtain prior to having a child 
in order to inform them about the potential for a genetic disorder in 
their child. These reproductive genetic tests include carrier tests, 
prenatal tests, and predictive tests for a late-onset

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dominant disorder in an at-risk parent.\6\ Carrier genetic tests are 
performed on people who display no symptoms for a genetic disorder but 
may be at risk for passing it on to their children. Diagnostic prenatal 
genetic tests show if the developing baby has a certain genetic 
condition. A parent with a family history of a genetic disorder with 
dominant inheritance that does not manifest until after childbearing 
years may wish to get a predictive genetic test for that disorder to 
understand the risk of passing that disorder to his or her child.
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    \6\ We do not make a determination of disability for fetuses. We 
can, however, consider the results of certain prenatal genetic tests 
as part of the MER in accordance with our policy once the child is 
born and a disability claim has been filed on his or her behalf.
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4. Why are genetic tests relevant to us?

    Scientific researchers are discovering an increasing number of 
associations between genetic variants and medical disorders.\7\ With 
this knowledge often comes the ability to perform a laboratory test to 
determine whether a person carries a genetic variation associated with 
a particular disorder. There are tens of thousands of genetic tests 
available for clinical use and the number continues to grow. These 
tests can identify thousands of genetic disorders.\8\ The results of 
such tests may appear in disability case records. Genetic tests are 
more widely available and genetic test results are now more commonplace 
within disability case files.
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    \7\ Current statistics on genetic variants and corresponding 
conditions can be found at the Online Mendelian Inheritance in Man 
database on the ``Statistics'' page, available at http://www.ncbi.nlm.nih.gov/clinvar/submitters/ or http://www.omim.org/statistics/entry.
    \8\ See the NCBI Genetic Testing Registry, available at http://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=all%5bsb (last visited 
August 2015). See also, the American Medical Association (AMA) page 
regarding genetic testing, available at http://www.ama-assn.org/ama/pub/physician-resources/medical-science/genetics-molecular-medicine/related-policy-topics/genetic-testing.page? See also, the Centers 
for Disease Control and Prevention (CDC) page regarding genetic 
testing, available at http://www.cdc.gov/genomics/gtesting/.
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5. 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.\9\ 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.\10\ 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.
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    \9\ Under listings 10.06A and 110.06A, a laboratory report of 
karyotype analysis not signed by a physician is also sufficient if 
it is accompanied by a statement of a physician that the person has 
Down syndrome.
    \10\ These listings are for xeroderma pigmentosum (8.07A and 
108.07A), 20 CFR part 404, subpart P, appendix 1.
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6. Will we purchase genetic testing by way of consultative examination 
(CE)?

    No. We will not order genetic testing in a CE. While genetic test 
results may provide valuable information when they appear as part of a 
large body of MER, they are not necessary to establish a finding of 
disability.

7. Do we consider medical evidence that includes the results of genetic 
tests?

    Yes, we consider all evidence we receive, including genetic test 
results, when evaluating a disability claim.\11\ In considering a 
disability claim, we generally request evidence about a person's 
medical impairment(s) for a period of at least the 12 months (and a 
longer duration if circumstances warrant) preceding the month in which 
a person files an application.\12\ This includes objective medical 
evidence, a claimant's reported symptoms, statements from others about 
the effects of the claimant's impairment(s), and opinion evidence.\13\
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    \11\ 20 CFR 404.1512(b)(1), 404.1513(b)(3), 404.1520(a)(3), 
404.1528(c), 416.912(b)(1), 416.913(b)(3), 416.920(a)(3), 
416.928(c).
    \12\ 20 CFR 404.1512(d), 404.1519m, 416.912(d), and 416.919m.
    \13\ 20 CFR 404.1512(b), 404.1513(d), 404.1527, 416.912(b), 
416.913(d), and 416.927. SSR 06-03p.
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    The results of genetic tests constitute laboratory findings, which 
are considered objective medical evidence. Consistent with our 
regulations, when genetic test results are available, we will consider 
them, together with all relevant evidence available in the case record, 
such as signs, symptoms, other laboratory findings, and medical opinion 
evidence.\14\ When evidence is inconsistent, such as when genetic test 
results are inconsistent with other substantial evidence, we will 
resolve the inconsistency when it is material to the disability 
determination, as we do with all medical evidence.\15\
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    \14\ 20 CFR 404.1512(b), 404.1520(a)(3), 416.912(b), 
416.920(a)(3), 416.924(a), and 416.924a(a)(1)(i).
    \15\ 20 CFR 404.1520b and 416.920b
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8. Do we require genetic test results to find a claimant disabled?

    No, genetic test results are not required for a finding of 
disability. A finding of disability requires a claimant to have an MDI, 
which can be expected to result in death or which has lasted or can be 
expected to last for a continuing period of not less than 12 
months.\16\ We establish physical and mental impairments by medical 
evidence consisting of signs, symptoms, and laboratory findings.\17\ 
While several medical listings require or reference the use of genetic 
test results as a way to meet the applicable listing at step 3 of the 
sequential evaluation process,\18\ our rules do not require the results 
of genetic tests in order to determine that a person is disabled.
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    \16\ 20 CFR 404.1505(a) and 416.905(a).
    \17\ 20 CFR 404.1508 and 416.908.
    \18\ Listings 8.07, 10.06A, 10.06B, 108.07, 110.06A, and 
110.06B, 20 CFR part 404, subpart P, appendix 1, require genetic 
testing results in order for these impairments (genetic 
photosensitivity disorders and non-mosaic Down syndrome) to meet the 
listing.
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9. Who typically provides genetic test evidence?

    We typically receive the results of genetic tests in medical 
evidence from clinical geneticists, other physicians, and genetic 
counselors. Claimants sometimes provide results of ``direct-to-
consumer'' (DTC) medical tests. We will consider genetic test results 
from all sources, medical and otherwise.\19\
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    \19\ 20 CFR 404.1513(a), 404.1513(d), 416.913(a), and 
416.913(d).
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a. Geneticists and Other Physicians
    Clinical geneticists are physicians specializing in the diagnosis 
and management of hereditary disorders. Clinical geneticists and other 
licensed physicians have a medical degree and are acceptable medical 
sources (AMS). We establish the existence of an MDI using objective 
medical evidence (signs or laboratory results) from an AMS. 
Cytogeneticists, biochemical geneticists, and molecular geneticists may 
hold a Ph.D. or a medical degree (e.g., M.D. or D.O.); those without a 
medical degree are generally not AMSs. For example, Ph.D. 
cytogeneticists typically work in laboratories or act as clinical 
consultants, but do not regularly interact with patients. These types 
of geneticists may be involved in obtaining genetic testing results and 
may be board-certified, but they are not AMSs if they are not also 
licensed physicians or otherwise classified as an AMS.

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b. Genetic Counselors
    Genetic counselors assess and communicate genetic risk for medical 
conditions in a person and members of his or her biological family. 
They obtain and evaluate personal and family medical histories as well 
as identify and coordinate genetic tests and other diagnostic studies, 
as appropriate, to obtain needed information for a genetic assessment. 
They are also able to explain the clinical implications of genetic 
laboratory tests and other diagnostic studies and their results.\20\
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    \20\ See the National Society of Genetic Counselors (NSGC) page 
regarding genetic counselor licensure, available at http://nsgc.org/p/cm/ld/fid=18.
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    These professionals typically hold a master's degree in Genetic 
Counseling and may be board-certified by the American Board of Genetic 
Counseling (denoted by the use of the credential ``Certified Genetic 
Counselor'' or CGC). However, we do not consider a genetic counselor to 
be an AMS under our rules unless the individual is also a licensed 
physician or other AMS provider. This is true even when the genetic 
counselor is licensed to practice genetic counseling by his or her 
State. We cannot establish the existence of an MDI based solely on a 
report from a genetic counselor. We can use evidence from genetic 
counselors working in an independent capacity to show the severity of a 
person's impairment and how it affects the person's ability to work, 
or, for children, how the child typically functions compared to 
children of the same age who do not have impairments.\21\
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    \21\ 20 CFR 404.1513(d) and 416.913(d).
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c. ``Direct-to-Consumer'' (DTC) Tests
    DTC genetic tests are available and appear to be growing in 
popularity. These tests are generally marketed directly to consumers 
via television, print advertisements, or the internet. A person 
typically collects a DNA sample at home, such as by swabbing the inside 
of the cheek, and mails the sample back to the laboratory for testing. 
In some cases, the person must visit a health clinic to have blood 
drawn. The samples are analyzed and consumers are directly notified of 
the results by mail, over the telephone, or online.\22\
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    \22\ See the Genetics Home Reference page, a service of the U.S. 
National Library of Medicine, detailing what direct-to-consumer 
genetic testing is, available at http://ghr.nlm.nih.gov/handbook/testing/directtoconsumer. See also, the American College of 
Preventative Medicine's Genetic Testing Clinical Reference for 
Clinicians and Genetic Testing Time tool pages, illustrating the 
growth of genetic testing, available at http://www.acpm.org/?GeneticTestgClinRef.
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    There is currently little regulation and oversight of DTC genetic 
testing, leading to concerns about its accuracy, reliability, and 
clinical relevance.\23\ DTC services generally do not establish an 
appropriate chain of custody of the DNA sample. There is no assurance 
that DTC genetic test results belong to a given claimant, as the entire 
transaction typically takes place with no personal interaction with a 
medical source or without any type of oversight that confirms the 
identity of the person providing the sample. For these reasons, DTC 
genetic test results cannot be the basis for establishing an MDI, 
regardless of AMS adoption or involvement.\24\ Nevertheless, DTC 
results, when consistent with independent credible objective medical 
evidence, can help corroborate other findings or the claimant's 
allegations.\25\
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    \23\ See Yale Journal of Biology and Medicine, Direct-to-
Consumer Genetic Testing: A Comprehensive View. (Yale J Biol Med. 
Sep 2013; 86(3): 359-365). See also, the American Society of Human 
Genetics statement on direct-to-consumer genetic testing in the 
United States. (Am. J. Hum. Genet. 2007; 81: 635-637).
    \24\ 20 CFR 404.1508 and 416.908.
    \25\ 20 CFR 404.1520b and 416.920b.
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10. Can we consider genetic test results in the sequential evaluation 
process?

    Yes, we consider genetic test results and all other evidence in 
varying ways throughout the sequential evaluation process.\26\ At step 
2 we establish whether a person has an MDI and whether the impairment 
or combination of impairments is severe, i.e., whether it significantly 
limits the physical or mental ability to do basic work activities.\27\ 
Information from genetic test results can help establish an MDI if they 
are from an AMS and not based on DTC test results. However, a genetic 
test alone cannot typically show whether or not an impairment is 
severe. At step 3 we consider whether the impairment meets or medically 
equals the requirements of a listed impairment in the medical listings. 
Several of our medical listings include criteria that require 
appropriate genetic test results for an impairment to meet the 
listing.\28\
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    \26\ Step 1 of the sequential evaluation process considers work 
activity and whether a claimant is engaged in substantial gainful 
activity. Genetic testing or genetic test results do not impact this 
step.
    \27\ For children, we will consider whether you have more than a 
slight abnormality or combination of slight abnormalities that cause 
more than minimal functional limitations. See 20 CFR 404.1520(c), 
416.920(c), and 416.924(c).
    \28\ See FN 18.
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    If a person's MDI does not meet or medically equal a listing, we 
assess whether the impairment(s) results in functional limitations that 
would prevent him or her from performing past relevant work or other 
work at steps 4 and 5 of sequential evaluation.\29\ For children, we 
assess whether the impairment(s) causes marked and severe functional 
limitations.\30\ Genetic test results generally do not provide us with 
significant information about impairment severity or functional 
capacities.
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    \29\ 20 CFR 404.1520(f), 404.1520(g), 416.920(f), and 
416.920(g).
    \30\ 20 CFR 416.906 and 416.926a.
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a. Can we use genetic test results to establish an MDI (Step 2)?
    When genetic test results come from an AMS and are not based on DTC 
genetic testing, we can use the evidence to establish an MDI if there 
are signs and symptoms consistent with the impairment.\31\ We can 
consider the results of previously-performed genetic testing in 
establishing an MDI, if signs and symptoms of an impairment are 
present. We cannot use the results of genetic tests, in the absence of 
any signs or symptoms, as the sole basis for establishing an MDI, even 
if the results are highly-suggestive of the eventual development of an 
impairment.\32\ We must be able to establish that a person has an MDI 
at the disability onset date.
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    \31\ Predictive, as opposed to diagnostic, test results from an 
AMS do not constitute laboratory results that can establish an MDI.
    \32\ For example, see FN5 regarding the predictive nature of 
genetic tests for BRCA1 and BRCA2. The meeting of listings 10.06 or 
110.06, based on a karyotype report signed by a physician, would be 
an exception.
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    Although non-physician geneticists are generally not AMSs, a 
physician or other AMS typically reviews or evaluates test results 
produced by a non-physician geneticist and incorporates these test 
results into an individual's medical record. In such a case, the 
evidence can be used to help establish an MDI. Similarly, genetic 
counselors are generally not AMSs. Therefore, we cannot establish the 
existence of an MDI based solely on a report from a genetic counselor. 
However, genetic counselors typically work in a setting where they are 
in close collaboration with a physician or other AMS. When a person is 
referred for diagnostic testing by a genetic counselor, the results are 
often reviewed, evaluated, interpreted, or used by a physician and 
incorporated into a medical record. In such a case, this evidence can 
help establish an MDI.
    Similar to imaging from an x-ray or MRI, which requires AMS 
involvement to establish an MDI, a genetic test result without AMS 
involvement cannot establish an MDI. A DTC genetic test result, even if 
evaluated, interpreted, or otherwise utilized by an AMS, cannot lead to 
the establishment of an MDI

[[Page 21948]]

because there is no assurance that the test results belong to a given 
claimant and no appropriate chain of custody of the sample is 
established.
    Many disorders with a known genetic basis can be, and often are, 
established by means other than genetic tests. For example, although 
diagnostic genetic tests for cystic fibrosis exist, as do guidelines 
surrounding their use, the most common confirmatory test for this 
disease is the sweat chloride test, which measures the concentrations 
of a certain electrolyte in a person's sweat.\33\ It is not a genetic 
test. While we consider genetic test results in conjunction with the 
rest of the objective medical evidence when they are available, we do 
not require a person to undergo such testing to prove they have an MDI 
or are disabled.
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    \33\ See http://www.nlm.nih.gov/medlineplus/ency/article/003630.htm.
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b. Can we evaluate impairment severity using the results of genetic 
tests (Step 2)?
    To some extent, genetic test results can be helpful in our overall 
impairment evaluation, but generally they do not help us determine 
whether or not an impairment is severe. For an impairment to be severe, 
it must significantly limit an adult's physical or mental ability to do 
basic work activities.\34\ In the case of a child, for an impairment to 
be severe it must be more than a slight abnormality that causes more 
than minimal functional limitations.\35\
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    \34\ 20 CFR 404.1520(c) and 416.920(c).
    \35\ 20 CFR 416.924(c).
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    Genetic test results generally do not provide information about the 
degree of functional limitation associated with an impairment, but they 
can be used to help evaluate for consistency with or supportability of 
alleged symptoms and limitations. With the exception of non-mosaic Down 
Syndrome, we need evidence other than genetic test results to show a 
person's impairment is severe. This evidence comes from other medical 
records, a claimant's report of symptoms, and statements from 
nonmedical sources.\36\
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    \36\ In cases of a catastrophic congenital disorder, as detailed 
in listing 110.08, 20 CFR part 404, subpart P, appendix 1, or other 
extreme cases, genetic test results alone may show a person's 
impairment is severe.
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c. Can we evaluate medical listings with genetic test results (Step 3)?
    For several medical listings, we use genetic test results to 
evaluate whether a person's impairment meets a medical listing. Four of 
our medical listings include, as part of the criteria for an impairment 
to meet a listing, the use of appropriate genetic test results.\37\ 
Listings 10.06 and 110.06 for non-mosaic Down syndrome (trisomy 21) use 
the results of genetic tests. Karyotyping for Down syndrome is the 
``gold standard'' for diagnosis. We typically require the results of 
karyotype analysis for an impairment to meet 10.06A, 10.06B, 110.06A, 
or 110.06B.\38\ Additionally, we require diagnostic genetic test 
results for xeroderma pigmentosum to meet listing 8.07A or 108.07A.
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    \37\ These listings include those for xeroderma pigmentosum 
(8.07A and 108.07A) and non-mosaic Down syndrome (10.06A and 
110.06A), 20 CFR part 404, subpart P, appendix 1.
    \38\ Listings 10.06 and 110.06, 20 CFR part 404, subpart P, 
appendix 1, require that a claimant's non-mosaic Down syndrome be 
documented by: A. a laboratory report of karyotype analysis signed 
by a physician, or both a laboratory report of karyotype analysis 
not signed by a physician and a statement by a physician that you 
have Down syndrome (see 10.00C1); B. a physician's report stating 
that you have chromosome 21 trisomy or chromosome 21 translocation 
consistent with prior karyotype analysis with the distinctive facial 
or other physical features of Down syndrome (see 10.00C2a); or C. a 
physician's report stating that you have Down syndrome with the 
distinctive facial or other physical features and evidence 
demonstrating that you function at a level consistent with non-
mosaic Down syndrome (see 10.00C2b).
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    We may also use genetic test results indicating the presence of a 
catastrophic congenital disorder, such as Edward's syndrome (trisomy 
18), to find a child's impairment meets listing 110.08. Other medical 
listings are for disorders, such as cystic fibrosis \39\ and chronic 
myelogenous leukemia, with at least one known genetic basis and an 
available associated test.\40\ Often, additional medical evidence is 
required to find a person's impairment meets a relevant listing.\41\
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    \39\ Listings 3.04 and 103.04, 20 CFR part 404, subpart P, 
appendix 1.
    \40\ Listings 13.06B and 113.06B, 20 CFR part 404, subpart P, 
appendix 1.
    \41\ 20 CFR part 404, subpart P, appendix 1. For example, Marfan 
syndrome (listings 4.00H and 104.00F) and genetic photosensitivity 
disorders other than xeroderma pigmentosum (listing 8.07 and 
108.07).
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d. Can we evaluate the degree of limitation and residual functional 
capacity (RFC) using genetic test results (Steps 4 and 5)?
    While genetic tests may help to establish the presence of a 
disorder and assist in determining whether an impairment meets or 
medically equals a listing, the results alone generally do not provide 
us with information about the degree of a person's limitation due to 
the impairment. A claimant's RFC reflects the most he or she can do 
despite his or her limitations.\42\ If an adult's impairment does not 
meet or medically equal a listing at step 3 of the sequential 
evaluation process, we assess RFC, which applies to both steps 4 and 5. 
If a child's impairment does not meet or medically equal a listing, we 
assess functional equivalence. Functional equivalence deals with broad 
areas of functioning intended to capture all of what a child can or 
cannot do.\43\ As is the case with RFC, genetic test results alone 
generally do not provide us with information about the degree of 
limitation as it relates to functional equivalence.
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    \42\ 20 CFR 404.1545 and 416.945.
    \43\ 20 CFR 416.906 and 416.926a.
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    To assess a claimant's impairments beyond step 3, we need non-
genetic evidence about the impairment's effect on a person's 
functioning to determine the most the person can do despite his or her 
limitations and restrictions.\44\ Many disorders associated with known 
gene mutations are multifactorial in nature. Environmental and other 
influences that are not well-understood affect the development of 
medical signs and symptoms resulting from the disorder and the degree 
of limitation a person with the disorder experiences. Therefore, 
additional evidence is necessary to adequately assess a person's RFC 
and ability to engage in work activities.
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    \44\ 20 CFR 404.1545(a), 416.945(a), and SSR 96-8p, Titles II 
and XVI: Assessing Residual Functional Capacity in Initial Claims 
(1996), 61 FR 34474, available at http://www.socialsecurity.gov/OP_Home/rulings/di/01/SSR96-08-di-01.html.
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    However, results of genetic tests can be assessed for consistency 
with a person's symptoms and alleged limitations. For example, genetic 
test results may lead an AMS to diagnose familial Mediterranean fever. 
A common symptom is painful inflammation in various areas of the body, 
including joints.\45\ If someone complains of significant joint pain 
and has genetic test results leading to a diagnosis of familial 
Mediterranean fever, we can take into account that the claimant's 
reported symptoms are consistent with the genetic test results.
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    \45\ See http://ghr.nlm.nih.gov/condition/familial-mediterranean-fever.
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11. If a person is found disabled, can we use genetic test results when 
setting a diary for continuing disability review (CDR)?

    Yes. We consider all impairments and case facts to determine when 
to conduct a CDR. We conduct a full evaluation of all evidence, 
including genetic test results, when setting diary dates. Due to the 
diversity of types of genetic tests and the differing types of 
information that genetic test results can provide, the

[[Page 21949]]

impact of genetic test results on diary lengths will vary.

12. What is our policy regarding the disclosure of the results of 
genetic tests?

    The Privacy Act of 1974 (5 U.S.C. 552a), section 1106 of the Social 
Security Act (42 U.S.C. 1306), and our disclosure regulations (20 CFR 
part 401) govern the collection, maintenance, and use of an 
individual's information in our systems of records. Although these 
authorities do not specifically address requirements for the disclosure 
of genetic test results, they apply to the extent we maintain this type 
of information in our records.
    Under the Privacy Act and our disclosure regulations, we generally 
cannot disclose genetic test results without the consent of the subject 
of the record. For example, if an individual's MER contains genetic 
test results and he or she authorizes us to disclose this specific 
information to a third party, we will do so with a valid, written 
consent that meets our regulatory requirements.
    In addition, the Privacy Act grants individuals a right of access 
to any records we maintain about them in our systems of records. 
Therefore, any genetic test results we maintain in an individual's MER 
(including records a medical consultative examiner may have generated 
on our behalf) are subject to these access requirements, as is the case 
with all medical evidence. However, if we determine that direct access 
to the medical information is likely to have an adverse effect on the 
subject of the record, we will follow certain procedures in providing 
access to the information.\46\
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    \46\ 20 CFR 401.55.
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    EFFECTIVE DATE: This SSR is effective on April 13, 2016.
    CROSS REFERENCES: SSR 86-8, Titles II and XVI: The Sequential 
Evaluation Process; SSR 96-2p, Titles II and XVI: Giving Controlling 
Weight to Treating Source Medical Opinions; SSR 96-5p, Titles II and 
XVI: Medical Source Opinions on Issues Reserved to the Commissioner; 
SSR 96-7p, Titles II and XVI: Evaluation of Symptoms in Disability 
Claims: Assessing the Credibility of an Individual's Statements; SSR 
96-8p, Titles II and XVI: Assessing Residual Functional Capacity in 
Initial Claims; SSR 06-3p, Titles II and XVI: Considering Opinions and 
Other Evidence from Sources Who Are Not ``Acceptable Medical Sources'' 
in Disability Claims; Considering Decisions on Disability by Other 
Governmental and Nongovernmental Agencies; and Program Operations 
Manual System (POMS) DI 00115.015, DI 22501.001, DI 22505.001, DI 
22505.003, DI 24501.020, DI 24515.001, DI 24515.061, DI 24515.062, DI 
25201.005.
[FR Doc. 2016-08467 Filed 4-12-16; 8:45 am]
 BILLING CODE 4191-02-P