Expert Advice on Genetic Testing Approaches Yields Significant ROI

Posted by The Evidence Blog on July 13, 2012

By Diane Allingham-Hawkins, PhD, FCCMG, FACMG, Director of the Hayes Genetic Test Evaluation Program

Having access to an expert who understands the intricacies of specific genetic tests can help payers and providers to determine the most cost-effective approach to testing for individuals with suspected genetic diseases. Incorporating this advice into decision making resulted in cost savings for two of our clients who experienced coverage policy dilemmas.

One of our clients was evaluating a request for coverage from a patient who was recently diagnosed with Charcot-Marie-Tooth (CMT) disease. CMT, one of the most common inherited neurological disorders, affects approximately 1 in 2500 people in the United States and refers to a group of disorders with similar clinical characteristics but for which at least 40 different genes have been described. Almost half of the cases of CMT are CMT type 1 (CMT1); the majority of CMT1 cases are CMT1A, which is caused by a single large duplication in the PMP22 gene. Testing for this specific duplication costs approximately $1000.

A neurologist had requested a specific test called a “Complete CMT Evaluation.” The price of this test was $17,000 and tested for variants in 16 different genes. Our client wanted to know whether this approach was the most effective way to identify the patient’s specific genetic variant. Since CMT1A is the most common variant, I recommended testing for the specific duplication that causes CMT1A as the first step and advised the payer to proceed with the more comprehensive test only if this test was negative. Using this approach resulted in a cost savings of nearly $16,000.

Another client needed advice on testing for Sanfilippo syndrome. Also known as mucopolysaccharidosis type III; Sanfilippo syndrome is an inherited disease of metabolism in which the body cannot break down long chains of sugar molecules. Sanfilippo syndrome is diagnosed in approximately 1 in 70,000 births and is inherited as an autosomal recessive trait, meaning that both parents must pass on the defective gene.

Our client received a request to perform a full analysis of the 4 genes associated with Sanfilippo syndrome on all 4 members of a family who were at risk to be carriers of the defective gene. The price for each family member would be more than $6000. The client needed expert advice to determine whether testing the entire family was the best approach.

Considering that within any given family, the genetic variant responsible for Sanfilippo syndrome is the same for all family members, I recommended a tiered approach to familial testing; specifically, I advised the payer that a comprehensive analysis should only be performed for one affected family member. If a variant was identified, the other family members can then be tested for that specific variant at a much reduced cost, usually

Topics: Hayes Blog, Genetic Testing

Sign up to receive updates from our blog

Our latest articles

New Call-to-action