The Results Are In: The Most-Requested Genetic Testing Topics

Posted by The Evidence Blog on November 15, 2011

by Diane Allingham-Hawkins, PhD, FCCMG, FACMG, Director, Genetic Test Evaluation Services 

As I noted in a previous post, the American Medical Association (AMA) is in the process of developing guidelines, definitions, and new CPT codes for molecular diagnostic testing. We expect the first series of new molecular CPT codes to come into effect in January 2012, with additional codes implemented in 2013.
In anticipation of the implementation of these new codes, we recently surveyed our clients to identify those tests or disorders covered by the new codes in which they were most interested. Prior to the survey, we undertook a comprehensive review of the proposed code list and determined that the Hayes GTE Program currently had reports covering 71 of the proposed codes. In reviewing the remaining codes, we estimated that these could be covered with 49 additional topics in our GTE Index.

In the survey, we asked our clients to indicate their highest priority topics in five categories: cancer, pharmacogenetics, single gene disorders, tissue typing, and other. From the > 100 responses that we received, we were able to sort the 49 topics from highest to lowest priority. The 5 most-requested topics were:

  1. Single nucleotide polymorphism (SNP) microarray analysis chromosomal rearrangements
  2. HLA genotyping for tissue typing
  3. CFTR gene testing for cystic fibrosis
  4. Acute myeloid leukemia (AML)
  5. von Willebrand disease (VWF)

We are committed to ensuring that our clients are prepared for the implementation of these new CPT codes with the information they need to make defensible, transparent coverage policy decisions. Therefore, we will create high-level evidence reviews for each of the 49 topics by the end of December 2011, beginning with these highest priority topics. Those topics with sufficient evidence will move on to full health technology assessments in order of priority, with the majority of these reports being developed throughout 2012.

Visit our website to learn more and to stay up-to-date with developments in the new CPT codes for molecular tests.

Topics: Hayes Blog, Genetic Testing

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