Case Study: Harvard Medical School-Partners HealthCare Center for Genetics and Genomics

Vance Morgan, PhD., director of laboratory operations at HPCGG, examines the latest tool in diagnostic research.
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A person who potentially has the condition… merely donates a blood sample. HPCGG's clinical lab runs the tests.

The Seidmans, together with scientists at the Laboratory for Molecular Medicine, managed to create that test. Utilizing HPCGG's novel infrastructure, they applied the knowledge that a person with a mutation in any one of 10 genes will develop a bonafide case of cardiomyopathy. For economic reasons, the diagnostics team, now headed by Heidi Rehm, Ph.D., chose eight of the most commonly-mutated genes and fashioned them into three tests: panels A, B, and C.

A person who potentially has the condition — as measured by echocardiography and other standard methods — merely donates a blood sample. HPCGG's clinical lab runs the tests, which cost a total of $5,650:

Panel A looks for the most common mutations. If that test comes up negative, the sample moves to panel B, which picks up rarer mutations. If both A and B are negative, then the sample ends up at panel C, which tests for another cause of hypertrophy with signs and symptoms that mimic cardiomyopathy.

The reason for three smaller tests, rather than one large one, is to cut costs; if a patient tests positive for one of the more common mutations, panel A, he or she can stop there — and spend only $3,000. After that, other family members, including younger children who would otherwise go undiagnosed for years, can get the same test. Because it is for the same mutation, which is now known, the test only costs $250 for each subsequent family member.

From that perspective, genetic testing appears quite financially reasonable. It also finds the mutations early.

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