Some legal, social, and ethical issues related to the genetic testing revolution, as exemplified in the long QT syndrome.
Molecular Biology is revolutionizing medicine. There are a number of conditions, particularly exemplified by the long QT syndrome, where there is no structural abnormality but where a subset of patients is prone to sudden death. The issues of appropriate care are very complex, because there is tremendous overlap between patients with prolongation of the QT who remain asymptomatic and those with prolongation who are very symptomatic. Furthermore, even those who are prone to have one of the abnormal genes, may be asymptomatic. A large literature has developed, from both legal and ethical aspects, related to the fact that in genetic disease per se, not only is the person at risk, but so are many members of his or her family. A large literature has also developed as to which should be prime, the patient's privacy or the responsibility to make sure the entire family is knowledgeable and perhaps tested. At the present moment our care is based upon the fact that the precise identification of the gene is not yet available on a routine basis. This of course, may soon change. But we will still have difficult decisions to make. Obviously, we have a responsibility as physicians to be as precise as our discipline allows, but we have a responsibility to be flexible. Relief of anxiety, as an example, has to be a prime issue. This is certainly the case now when any information related to infants with potential sudden death is still incomplete. We must not approach the care of the patient in such a way that protection of the physician may interfere with appropriate care. The discussion necessarily includes a variety of aspects.
Liebman
J
J
Department of Pediatrics, Rainbow Babies & Children's Hospital, Case Western Reserve University, Cleveland, OH 44143, USA. JXLS@PO.CWRU.EDU
D004992:Ethics, Medical; D005260:Female; D005820:Genetic Testing / Q000331:legislation & jurisprudence*; D006801:Humans; D008133:Long QT Syndrome / Q000235:genetics; D008297:Male; D010817:Physician-Patient Relations; D018907:Privacy / Q000331:legislation & jurisprudence*; D012307:Risk Factors; D014342:Truth Disclosure