Words of Caution About Genetic Testing

The complexity of genetic testing is such that most non-genetic specialists may want to consult with a geneticist and/or genetic counselor to plan testing and interpret results.  Many CLIA certified test labs have genetic counselors available to help with test selection and interpretation.

Ordering genetic testing should be contingent on the ordering provider’s ability to:

  • Provide an accurate, precise and thorough phenotype using Human Phenotype  Ontology (HPO) terminology.
  • Obtain informed consent about variant interpretation and possible results including primary, secondary and incidental findings BEFORE testing.
  • Interpret and report results.

Genetic testing may be an exclusion of benefits for some insurance providers. Prior Authorization approval should be  obtained prior to obtaining the sample.

Patient/family autonomy guides decisions to pursue genetic testing.

Introduction to Commonly Recommended Genetic Tests

This video is the fourth in a four part series entitled “Improving Care for Developmental Disabilities & Dysmorphic Features”. The origianal American Board of Pediatrics approved MOC4 was created by the HRSA-funded Midwest Genetics Network (MGN) and its partners.

Choosing the Best Test

The ABC’s of CMA:  Genomic Tools:  Chromosomal Microarray

This information about how, when, and why to order and use chromosomal microarray testing is geared towards developmental pediatricians, but may also be of interest to other health care providers.

Genetic Testing Registry (GTR®)

The Genetic Testing Registry (GTR®) provides a central location for voluntary submission of genetic test information by providers. The scope includes the test’s purpose, methodology, validity, evidence of the test’s usefulness, and laboratory contacts and credentials. The overarching goal of the GTR is to advance the public health and research into the genetic basis of health and disease.

Concert Genetics

Concert  Genetics (formerly NextGxDx, Inc.) is a healthcare technology company dedicated to streamlining the genetic test selection, ordering, payment and management for clinicians, hospitals, laboratories and health plans.

Patient-centered Laboratory Utilization Guidance Services (PLUGS)

PLUGS® is a laboratory stewardship collaborative with a mission to improve laboratory test ordering, retrieval, interpretation and reimbursement.

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Whole Exome Sequencing (WES)

  Wisconsin MA will approve WES (proband only) under the Healthcheck “other services” benefit when ordered by a geneticist.  HealthCheck is a Medicaid health care benefit for children and young adults through age 20.

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Direct-to-Consumer (DTC) Genetic Testing

Direct-to-Consumer (DTC) genetic tests are marketed directly to customers via television, print advertisements, or the Internet, and the tests can be bought online or in stores. DTC genetic tests do not necessarily involve a healthcare professionals.  To learn more about DTC tests click here

Position Statements on DTC

Obtain Prior Authorization BEFORE Testing

The word documents provided on this website are intended as templates to justify medical necessity when requesting prior authorization for insurance coverage of genetic testing.  The documents will require modifications for your patient.  Using these templates does not guarantee approval of insurance coverage.  Testing labs often provide Letters of Medical Necessity on their websites as well.

We recommend genetic counseling prior to testing that includes: the reason for testing, what is (and is not) being tested, possible outcomes and their meaning, and the benefits and limitations of testing.

Note: When completed, these documents will contain Protected Health Information.  Follow your institutional HIPAA guidelines when using these documents.