Genetic Testing

Updated On Feb 25, 2022

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This information is meant to be used for educational purposes to inform providers, patients, and genetic service delivery stakeholders about genetics policy topics. Sharing of information, resources, or policy statements is no way an endorsement of stated positions by NCC.

Introduction

Genetic tests help individuals determine their genetic make-up. These tests can look at the individual’s DNA, other genetic material, or other health factors. Genetic tests can help diagnose disease, predict one’s risk of developing disease, or identify disease severity. These tests can be done at any stage of one’s life, from before birth to after death.

There are many policy areas that overlap with genetic testing. Please visit those pages for a more in-depth discussion. Some of those policy areas include:

Legislation and Regulation

Genetic tests are regulated at a federal level by the Food and Drug Administration (FDA), the Centers for Medicare and Medicaid Services (CMS), and the Federal Trade Commission (FTC). For more information on how tests can be evaluated, review the National Human Genome Research Institute (NHGRI) website page about genetic testing.

Additionally, some states place additional regulations on genetic tests. The National Human Genome Research Institute (NHGRI) has also cataloged individual state statutes and legislation, which can be accessed here.

Are you interested in learning what your state’s government or the federal government are currently proposing for either legislation or regulation? Check out Legislative/Tracking system for up-to-date information and subscribe to our Twitter channel to get the latest updates in your pocket.

Policy Positions

Organizations working within the genetics community (national genetic organizations, advocacy organizations, etc.) have published positions on genetic testing. Explore these position statements below.

 

Position Statements by Organizations
Joint Position Statement from the International Society for Prenatal Diagnosis (ISPD), the Society for Maternal Fetal Medicine (SMFM), and the Perinatal Quality Foundation (PQF) on the use of genome-wide sequencing for fetal diagnosis
Link
https://obgyn.onlinelibrary.wiley.com/doi/epdf/10.1002/pd.5195
Organization
International Society for Prenatal Diagnosis (ISPD), Society for Maternal Fetal Medicine (SMFM), Perinatal Quality Foundation (PQF)
Subject
Genome Sequencing Genetic Testing
Date
Statement on Use of Apolipoprotein E Testing for Alzheimer Disease
Link
https://www.acmg.net/PDFLibrary/Alzheimer-APOE-Testing.pdf
Organization
American College of Medical Genetics and Genomics (ACMG)
Subject
Genetic Testing Alzheimer's Disease
Date
January 1, 1995
Eugenics and the Misuse of Genetic Information to Restrict Reproductive Freedom
Link
https://www.cell.com/ajhg/fulltext/S0002-9297(07)61737-6
Organization
American Society of Human Genetics (ASHG)
Subject
Reproductive Options Genetic Testing
Date
October 1, 1998
Position Statement on Gene Patents and Accessibility of Gene Testing
Link
https://www.acmg.net/PDFLibrary/Gene-Patents.pdf
Organization
American College of Medical Genetics and Genomics (ACMG)
Subject
Gene Patents Genetic Testing
Date
August 2, 1999
Technical and clinical assessment of fluorescence in situ hybridization: An ACMG/ASHG position statement. I. Technical considerations
Link
https://www.acmg.net/PDFLibrary/Fluorescence-In-Situ-Hybridization-Clinical-Assessment.pdf
Organization
American College of Medical Genetics and Genomics (ACMG)
Subject
Genetic Testing Laboratory (Regulation/oversight)
Date
January 1, 2000
Pharmacogenetic testing of CYP2C9 and VKORC1 alleles for warfarin
Link
https://www.acmg.net/PDFLibrary/CYP2C9-VKORC1-Parmacogenetic-Testing.pdf
Organization
American College of Medical Genetics and Genomics (ACMG)
Subject
Genetic Testing Clinical Care
Date
February 1, 2008
Ancestry Testing Statement
Link
https://www.ashg.org/wp-content/uploads/2008/11/Statement-20081311-ASHGAncestryTesting.pdf
Organization
American Society of Human Genetics (ASHG)
Subject
Ancestry Genetic Testing Direct-to-Consumer Testing
Date
November 13, 2008
Comments on the Implementation of GINA
Link
https://www.ashg.org/wp-content/uploads/2008/11/Comments-20081812-response-to-request-in-GINA.pdf
Organization
American Society of Human Genetics (ASHG)
Subject
Discrimination Genetic Testing Genetic Privacy
Date
December 18, 2008
Guiding Principles on PROTECTION OF INTELLECTUAL PROPERTY- Patenting and Licensing in the Genetic Testing Arena
Link
https://www.ashg.org/wp-content/uploads/2010/04/PS-201004.pdf
Organization
American Society of Human Genetics (ASHG)
Subject
Genetic Testing Gene Patents Legal Access to Genetic Services
Date
April 1, 2010
Beast of Burden? Comments on the NIH Genetic Testing Registry
Link
https://www.researchgate.net/profile/Sharon-Terry/publication/221707943_Beast_of_Burden_Comments_on_the_NIH_Genetic_Testing_Registry/links/54737d1a0cf2778985abb52f/Beast-of-Burden-Comments-on-the-NIH-Genetic-Testing-Registry.pdf
Organization
Genetic Alliance
Subject
Genetic Testing
Date
March 1, 2012
Pediatric Sudden Cardiac Arrest
Link
https://publications.aap.org/pediatrics/article/148/1/e2021052044/179969/Sudden-Death-in-the-Young-Information-for-the?autologincheck=redirected
Organization
American Academy of Pediatrics (AAP)
Subject
Genetic Testing Pediatrics
Date
April 1, 2012
Points to Consider in the Clinical Application of Genomic Sequencing
Link
https://www.acmg.net/PDFLibrary/Genomic-Sequencing-Clinical-Application.pdf
Organization
American College of Medical Genetics and Genomics (ACMG)
Subject
Genome Sequencing Genetic Testing
Date
May 15, 2012
Technical report: ethical and policy issues in genetic testing and screening of children
Link
https://www.acmg.net/PDFLibrary/Ethical-Policy-Issues-Genetic-Screening-Children.pdf
Organization
American College of Medical Genetics and Genomics (ACMG)
Subject
Genetic Testing Pediatrics
Date
February 21, 2013
Ethical and Policy Issues in Genetic Testing and Screening of Children
Link
https://pediatrics.aappublications.org/content/131/3/620
Organization
American Academy of Pediatrics (AAP),American College of Medical Genetics and Genomics (ACMG)
Subject
Genetic Testing Pediatrics
Date
March 1, 2013
Sign On Letter for Restoration of Coverage of Laboratory Developed Tests (LDTs) for Military Service Members and Their Families
Link
https://geneticalliance.org/pdf/policy/01182014-TRICARE-sign-on-letter.pdf
Organization
Genetic Alliance
Subject
Genetic Testing Laboratory Developed Test (LDT)
Date
June 18, 2014
Secondary and Incidental Findings in Genetic Testing
Link
https://www.nsgc.org/Policy-Research-and-Publications/Position-Statements/Position-Statements/Post/secondary-and-incidental-findings-in-genetic-testing-1
Organization
National Society of Genetic Counselors (NSGC)
Subject
Genetic Testing Secondary Findings
Date
September 27, 2013
Comments Submitted in Response to FDA’s Draft Guidance: Framework for Regulatory Oversight of Laboratory Developed Tests
Link
https://www.ashg.org/wp-content/uploads/2015/02/PS-201502.pdf
Organization
American Society of Human Genetics (ASHG)
Subject
Genetic Testing Laboratory Developed Test (LDT) Laboratory (Regulation/oversight)
Date
February 2, 2015
Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening
Link
https://www.nature.com/articles/ejhg201557
Organization
American Society of Human Genetics (ASHG)
Subject
Genetic Testing Prenatal Testing/Screening
Date
March 1, 2015
Considering Pediatric Genetic Testing
Link
https://www.cell.com/ajhg/fulltext/S0002-9297(15)00236-0
Organization
American Society of Human Genetics (ASHG)
Subject
Genetic Testing Pediatrics Informed Consent
Date
July 2, 2015
NGS-based In Vitro Diagnostics
Link
https://www.ashg.org/wp-content/uploads/2015/12/PS-201610-2.pdf
Organization
American Society of Human Genetics (ASHG)
Subject
Genetic Testing Genetic Research Genetic Counselors
Date
December 1, 2015
Regulation of Genetic Testing
Link
https://www.nsgc.org/Policy-Research-and-Publications/Position-Statements/Position-Statements/Post/regulation-of-genetic-testing
Organization
National Society of Genetic Counselors (NSGC)
Subject
Genetic Testing Laboratory (Regulation/oversight)
Date
November 15, 2022
Genetic Testing of Minors for Adult-Onset Conditions
Link
https://www.nsgc.org/Policy-Research-and-Publications/Position-Statements/Position-Statements/Post/genetic-testing-of-minors-for-adult-onset-conditions#:~:text=The%20National%20Society%20of%20Genetic,or%20significantly%20benefit%20the%20child.
Organization
National Society of Genetic Counselors (NSGC)
Subject
Genetic Testing Pediatrics
Date
April 12, 2018
Use of Multi-Gene Panel Tests
Link
https://www.nsgc.org/Policy-Research-and-Publications/Position-Statements/Position-Statements/Post/use-of-multi-gene-panel-tests#:~:text=The%20National%20Society%20of%20Genetic,the%20genetic%20causes%20of%20disease.
Organization
National Society of Genetic Counselors (NSGC)
Subject
Genetic Testing Clinical Care
Date
June 15, 2023
Advancing Evidence-Based Genetic Testing
Link
https://www.ashg.org/wp-content/uploads/2018/01/Comments-010818-FDA-2017-N-1129.pdf
Organization
American Society of Human Genetics (ASHG)
Subject
Genetic Testing Direct-to-Consumer Testing
Date
January 8, 2018
Genetic Testing of Children in the Adoption Process
Link
https://www.nsgc.org/Policy-Research-and-Publications/Position-Statements/Position-Statements/Post/genetic-testing-of-children-in-the-adoption-process
Organization
National Society of Genetic Counselors (NSGC)
Subject
Genetic Testing Adoption
Date
October 9, 2018
Patient re-contact after revision of genomic test results: points to consider—a statement of the American College of Medical Genetics and Genomics (ACMG)
Link
https://www.acmg.net/PDFLibrary/Patient-recontact.pdf
Organization
American College of Medical Genetics and Genomics (ACMG)
Subject
Clinical Care Genetic Testing
Date
December 22, 2018
Defining the Responsibility to Recontact
Link
https://www.cell.com/ajhg/fulltext/S0002-9297(19)30070-9
Organization
American Society of Human Genetics (ASHG)
Subject
Genetic Testing Legal Genetic Research Secondary Findings
Date
April 4, 2019
ASBrS-NSGC Joint Statement of Medical Societies Regarding Genetic Testing Requirements
Link
https://www.nsgc.org/Policy-Research-and-Publications/Position-Statements/Position-Statements/Post/asbrs-nsgc-joint-statement-of-medical-societies-regarding-genetic-testing-requirements-1
Organization
ASBrS,National Society of Genetic Counselors (NSGC)
Subject
Genetic Testing
Date
February 7, 2021
Pulmonary Fibrosis Foundation Position Statement on Genetic Testing
Link
https://www.pulmonaryfibrosis.org/researchers-healthcare-providers/clinical-resources/position-statements/genetic-testing-in-pulmonary-fibrosis-for-health-care-providers
Organization
Pulmonary Fibrosis Foundation
Subject
Genetic Testing Clinical Care
Date
April 1, 2020
Points to consider for reporting of germline variation in patients undergoing tumor testing: a statement of the American College of Medical Genetics and Genomics (ACMG)
Link
https://www.acmg.net/PDFLibrary/Points%20to%20consider%20for%20reporting%20of%20germline%20variation%20in%20patients%20undergoing%20tumor%20testing.pdf
Organization
American College of Medical Genetics and Genomics (ACMG)
Subject
Clinical Care Genetic Testing
Date
April 23, 2020
Risk categorization for oversight of laboratory-developed tests for inherited conditions: an updated position statement of the American College of Medical Genetics and Genomics (ACMG)
Link
https://www.acmg.net/PDFLibrary/Risk%20categorization%20for%20oversight%20of%20laboratory-developed%20tests%20for%20inherited%20conditions.pdf
Organization
American College of Medical Genetics and Genomics (ACMG)
Subject
Genetic Testing Laboratory Developed Test (LDT)
Date
June 1, 2020
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