Certain inherited diseases confer a significantly increased risk of sudden death. Genetic tests for many of those diseases are available, but most coroners and medical examiners don’t order them.
In 2008, I wrote a column about a 14-year-old girl who died on a carnival ride. April Benally-Almaquer had long QT syndrome, one of several inherited diseases associated with molecular-level abnormalities in heart muscle cells and a propensity for sudden death. No heart abnormality is visible at autopsy.
April’s disease was known. Genetic tests weren’t necessary to determine why she died. Her family already knew April’s disease was inherited, so genetic counseling wasn’t needed, either.
But when a person with no known disease dies under circumstances suggestive of a heart problem and no visible or microscopic abnormality is found, only genetic tests can determine whether he or she had long QT syndrome or some similar disorder.
In such deaths, research studies have found a genetic-heart abnormality in about 35 percent of cases tested and in 7 percent of babies who died of what we used to call SIDS, or sudden infant death syndrome.
Long QT syndrome is almost always inherited as an autosomal dominant. That form of inheritance means that people who have the genetic defect will pass it on to half their children. If one of a dead person’s parents had long QT syndrome, that parent’s siblings and their children are also at risk.
Genetic tests cost thousands of dollars. I didn’t have that kind of money in my budget in La Plata County.
In a survey conducted by the University of Alabama and its medical school, 98 percent of responding medical examiners said they consider the possibility of long QT syndrome whenever they investigate sudden, unexpected deaths that may be heart-related.
Though a surprising number of those medical examiners didn’t know how long QT syndrome is inherited, and they significantly underestimated the degree of risk to close relatives, almost all routinely saved specimens for testing – by somebody else. Sixty percent never order genetic tests, mostly because of the cost.
Most medical examiners do what I did – tell families it’s possible their relative died of an inherited disease that could affect close family members and recommend that they consult a heart specialist.
But families may not have the money for testing, either.
A current Mayo Clinic study is using grant money to pay for the free testing of family members at risk for long QT, but they can’t test everybody.
Coroners and medical examiners are supposed to determine the cause of death. One goal is to identify unrecognized dangers to the living.
If genetic testing is necessary to identify a disease that might affect survivors, should jurisdictions pay? I’ll bet most jurisdictions have never considered the question.
email@example.com. Dr. Carol J. Huser, a forensic pathologist, served as La Plata County coroner from 2003-12. She now lives in Florida and Maryland.