Then, with this clinical doubt raised, Dr. Ackerman and co-investigators worked to discover the true reason behind the boy’s death. The research team used the molecular autopsy that was pioneered by Dr. Ackerman and his team. First performed in the late 1990s, the molecular autopsy has advanced to what Ackerman refers to as “the whole-exome molecular autopsy coupled with genomic triangulation.” This strategy “provided closure and clarity” for the family, he says. “We discovered that the boy died tragically from an abnormal heart muscle condition caused by an entirely different genetic defect – unrelated to long QT syndrome – that was confined to only the sudden death victim,” Dr. Ackerman says.
MEDIA CONTACT: Traci Klein, Mayo Clinic Public Affairs, 507-284-5005, newsbureau@mayo.edu
“This family study highlights just how important it is to get things right on the first attempt, as it takes a tremendous amount of time, energy and money to reverse course and do it over again. It also depicts exactly the wrong way of using genetic testing and also precisely the right way of using and interpreting genetic testing. Ultimately, the clinician clinician’s long-standing role to meticulously phenotype (characterize) his or her patient and his or her family is what matters most. When the pursuit of the genotype gets in front of the establishment of the phenotype, bad things happen,” Dr. Ackerman says.
Co-authors are: Jaeger Ackerman, Jamie Kapplinger, David Tester, all of Mayo Clinic; Daniel Bartos, Ph.D., University of Kentucky and University of California, Davis; and Brian Delisle, Ph.D., University of Kentucky.
About Mayo Clinic
Mayo Clinic is a nonprofit organization committed to medical research and education, and providing expert, whole-person care to everyone who needs healing. For more information, visit mayoclinic.org/about-mayo-clinic or newsnetwork.mayoclinic.org.
About Mayo Clinic Proceedings
Mayo Clinic Proceedings is a monthly peer-reviewed medical journal that publishes original articles and reviews dealing with clinical and laboratory medicine, clinical research, basic science research and clinical epidemiology. Proceedings is sponsored by the Mayo Foundation for Medical Education and Research as part of its commitment to physician education. It publishes submissions from authors worldwide. The journal has been published for more than 80 years and has a circulation of 130,000. Articles are available at mayoclinicproceedings.org.
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