- Associated Press - Thursday, April 24, 2014

LANCASTER, Pa. (AP) - For families like the Hillards in Leola, it is a nightmare followed by frightening questions.

The nightmare: Their 6-month-old son, Camden, died in his sleep in February.

The questions: What happened? And does some unknown family medical problem threaten their surviving 3-year-old daughter, Cali?

Local doctors and medical authorities are taking the first steps to find answers to these kinds of questions by preparing for a new type of autopsy.

Called a molecular autopsy, it uses genetic testing to discover if there are inherited medical problems, usually heart-related, in victims who die suddenly from no apparent cause.

Starting next month, the Lancaster County Coroner’s office will begin collecting blood samples, and soon after that, tissue samples, from everyone who undergoes an autopsy at the county forensic center.

The samples will be kept for possible later use for genetic testing for victims of sudden, unexplained deaths, particularly infants, children and young adults.

The move is possible because the technology for genetic testing is now more readily available and the cost of such testing is coming down.

Now is the time to start unraveling the mystery, and the possible risks to survivors, posed by unexplained deaths, doctors say.

“We are in the midst of a genetic revolution,” says Dr. Devyani Chowdhury, a pediatric cardiologist with LG Health Pediatric Specialists, who recently organized a local symposium on molecular autopsies and called together a group of doctors from across the state to advocate for the procedures.

Physicians at the Mayo Clinic will be doing a molecular autopsy on Camden Hillard, via a research project at the Minnesota facility, as the child died shortly before the sample collection and move toward more organized genetic testing began here.

“After Camden passed away, our immediate thought was if Cali had something, we wanted to find that out,” says Camden’s mother, Julie. “Genetic testing would give us a sound mind, especially if there was a condition with his heart, or anything like that.”

Lancaster County Coroner Dr. Stephen Diamantoni says coroners need to take steps so that they have the proper samples for possible genetic testing. That led to his move to start to routinely take blood and eventually tissue samples from those undergoing autopsies here.

“This is cutting edge stuff,” says Kevin Stroyan, Pike County coroner and president of the Pennsylvania State Coroners Association. “It has great potential. … Dr. Diamantoni is on the ground floor of this research.”

Diamantoni sees several unexplained deaths every year, often among infants or among people in the Plain Sect population, who may be subject to one of a number of underlying genetic conditions particular to that group.

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