Recently, the federal government has taken a big step to encourage our patients to utilize genetic testing. Passage of the Genetic Information Non-Discrimination Act will protect patients from discrimination in health insurability due to genetic findings, making genetic testing a much more viable and attractive option as part of routine health maintenance.

Knowledge of preexisting genetic conditions will allow physicians to provide better treatment, and let anesthesiologists prevent serious adverse outcomes such as Malignant Hyperthermia, among others. Deaths still occur from malignant hyperthermia (MH), a genetic variant in control of calcium transport in muscle cells. (Some recent cases, involving healthy young adults, were described in a recent article in Anesthesiology 2008 by Dr. MG Larach and colleagues and the North American MH Registry, housed at Children's Hospital of UPMC.) Since 2006 the Division of Molecular Diagnostics at UPMC has offered genetic screening for MH susceptibility by blood tests in patients who were rescued from MH, as well as in muscle tissue from those who died of MH. It is of the utmost importance to pursue such testing after an episode of MH because confirmation of MH susceptibility in the index patient by means of genetic testing will simplify evaluation of all blood relatives.

Dr. Brandom, who is an anesthesiologist dedicated to the best care of pediatric patients, urges primary care physicians to ask their patients at the time of yearly visits if there have been any adverse reactions to general anesthesia in the family. To evaluate the need for genetic testing, anesthetic and medical records should be reviewed by an experienced anesthesiologist.  See www.mhaus.org for addresses of Diagnostic MH Biopsy Centers.

Families may wish to forget the sudden, unexpected deaths of loved ones, but the primary care physician can help prevent further injury and possibly death in genetically prone family members by pursuing a genetic diagnosis electively. And because of the Genetic Information Non-Discrimination Act, families need not worry about being penalized for their prudence.