Use Genetic Testing Responsibly

To ensure optimal patient care, we recommend that providers who order genetic tests be able to:icon - magnifying glass over exclamation point

  • Provide thorough phenotype using Human Phenotype Ontology (HPO) terminology to the test lab. Accurate and complete clinical information (patient’s and family’s history, physical exam, and previous laboratory tests) is essential for the interpretation of findings.
  • Provide pre-test counseling regarding variant interpretation, possible results (primary, secondary and incidental findings) and obtain informed consent
  • Interpret and report results
  • Provide post-test counseling

Consider consulting with a geneticist or genetic counselor. Many CLIA-certified test labs have genetic counselors available to help with test selection and interpretation.

Choosing a Test

Finding a lab test that will meet the needs of the patient and ordering provider can be complicated. We have gathered resources with basic information to consider when integrating genetic testing into your practice. It is not intended to be comprehensive.

Learn more about testing

Identifying Available Tests and Labs

website iconGenetic Test Registry (GTR®) – A central location for voluntary submission of genetic test information by providers.

Concert Genetics – A resource for clinicians, hospitals, laboratories, and health plans to support genetic test selection, ordering, payment, & management.

Seattle Children’s Hospital Patient-centered Laboratory Utilization Services PLUGS®) – A laboratory stewardship collaborative to improve test ordering, retrieval, interpretation, and reimbursement.

Many CLIA-certified test labs have genetic counselors available to help with test selection.

Working with Insurance Providers

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Obtain insurance authorization prior to obtaining sample for genetic testing.

Genetic counselors at the Waisman Center created templates of medical justification for over 50 different conditions. They are available for your use. Test lab websites often provide Letters of Medical Necessity as well.

View Templates

Obtaining Informed Consent

Only patients/families can determine whether genetic testing is right for them. Adequate pre-test counseling and informed consent are essential for empowering patients and families to make the best decisions for their situation.

Prior to testing, ensure patients and families have a clear understanding of:

Professional Guidance

Elements of Consent for Microarray

consent form icon

We have recorded informed consent videos for common tests that you can share with patients to ensure they have the information they need:

Interpreting Results

  • Genetic testing increasingly detects novel sequence variants.Variant Classification - genetic variants are classified along a spectrum of pathogenicity
  • Our understanding of the clinical significance of a variant falls along a gradient, ranging from those in which the variant is almost certainly pathogenic to those that are almost certainly benign.
  • Variant analysis is imperfect, and the variant category reported does not imply 100% certainty.
  • Variant classification can change as new evidence becomes available.
  • Use of a standard variant nomenclature is recommended.
  • The lab report contains the evidence supporting the variant classification, recommendations for supplemental clinical testing, such as enzymatic/ functional testing and variant testing of family members, as well as references that contributed to the classification.
  • Consider consulting with a geneticist or genetic counselor. Many CLIA-certified test labs have genetic counselors available to help with test interpretation.

Position Statements on Interpreting Results

Webinar: Introduction to Commonly Recommended Genetic Tests

Providing Ongoing Support and Resources