Supporting Families. Saving Lives.
February 17, 2011
Recently, there has been a great deal of media coverage regarding postmortem practices in the United States. (NPR News Investigations series Post Mortem: Death Investigation in America in partnership with ProPublica and PBS Frontline). The SADS (Sudden Arrhythmia Death Syndromes) Foundation recommends that an autopsy be mandatory in all cases of sudden, unexpected death in the young (under age 40). In many cases of sudden, unexpected death involving children, adolescents, or young adults, families are left with no answers. Autopsies are not mandatory, and often the mysterious cause of the unexplained death is lost with the sudden death victim, leaving other family members potentially at risk if the victim’s death was, in fact, caused by a genetic heart condition.
We have worked with families that have lost more than one child to a SADS condition. These secondary deaths could have easily been prevented if a thorough investigation had taken place and an appropriate diagnosis of a SADS condition had been made, enabling proper screening and life-saving treatment of surviving family members.
When families are left to navigate this diagnostic process without the assistance of forensic professionals, the experience causes unnecessary added pain and distress. Suddenly bereaved and grieving families should not be responsible for requesting an autopsy or for trying to preserve appropriate tissue for a postmortem genetic investigation. This should be the new standard of care for the evaluation of every sudden, unexplained death of a person younger than 40 years of age.
The investigation of a premature, unexpected death must include: performance of a complete autopsy and a review of the sudden death victim’s personal and family history. At a minimum, first degree family members (parents and siblings) as well as any other family members with suspicious symptoms (like sudden fainting spells or generalized seizures) should be referred by their primary physicians for cardiac evaluation. An appropriate tissue samples such as blood in an EDTA tube, bloodspot cards, or frozen tissue (heart, liver, spleen, or thymus) should be collected from the deceased at the time of autopsy in order to extract and archive DNA. This DNA sample can be used for clinical genetic testing or sent to a DNA bank to be saved for future use. DNA banking is a safe and inexpensive way (~$100) to make sure a sample is saved for future use and not discarded by the medical examiners office. This relieves the medical examiner or coroner’s office of the burden of storing and maintaining samples. Accordingly, there is virtually no justification for not collecting a sample in these situations. The most effective way to diagnose many of these conditions is through genetic testing and the best person, and sometimes the only person to test, is the deceased. Guidelines for Samples to Save
We recognize that hard-working medical examiners and coroners across the country strive daily to provide quality services to distraught families on tight budgets.
Comprehensive and standardized investigations provide examiners and communities with a framework whereby the most accurate diagnoses can be attained, health statistics can be improved, research can be directed and resources can be guided where the need is greatest. Providing comprehensive investigations is in the best interest of all parties- including the medicolegal professions, law enforcement, the medical community, public health, the lay community, and the individual families who are faced with the tragedy of losing an otherwise healthy child, adolescent, or young adult in this sudden unexpected manner.