Use Genetic Testing Responsibly
To ensure optimal patient care, we recommend that providers who order genetic tests be able to:
- 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.
Identifying Available Tests and Labs
Genetic 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
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.
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:
- The reason for testing
- What is (and is not) being tested
- Variant interpretation
- Possible results of the test and their meaning (primary, secondary, and incidental findings)
- The benefits and limitations of testing
- Genetic testing increasingly detects novel sequence variants.
- 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
- Sequence variants
- Postnatal constitutional copy number variants
- Secondary findings
- Incidental findings