The construction of an accurate family pedigree is a fundamental component of a clinical genetic evaluation and of human genetic research. Previous surveys of genetic counselors and human genetic publications have demonstrated significant inconsistencies in the usage of common pedigree symbols representing situations such as pregnancy, termination of pregnancy, miscarriage, and adoption, as well as less common scenarios such as pregnancies conceived through assisted reproductive technologies. The Pedigree Standardization Task Force (PSTF) was organized through the Professional Issues Committee of the National Society of Genetic Counselors, to establish recommendations for universal standards in human pedigree nomenclature. Nomenclature was chosen based on current usage, consistency among symbols, computer compatibility, and the adaptability of symbols to reflect the rapid technical advances in human genetics. Preliminary recommendations were presented for review at three national meetings of human genetic professionals and sent to >100 human genetic professionals for review. On the basis of this review process, the recommendations of the PSTF for standardized human pedigree nomenclature are presented here. By incorporating these recommendations into medical genetics professional training programs, board examinations, genetic publications, and pedigree software, the adoption of uniform pedigree nomenclature can begin. Usage of standardized pedigree nomenclature will reduce the chances for incorrect interpretation of patient and family medical and genetic information. It may also improve the quality of patient care provided by genetic professionals and facilitate communication between researchers involved with genetic family studies.
Four meanings of medical necessity have emerged, evolved, and dominated past and current health policy debates about the appropriate level of service coverage under Canada's health insurance program. To explore the shift in definition, provincial government and national health care association position papers responding to federal legislative and policy reviews of Canada's health insurance program from 1957 to 1984 were examined, as were more current reports on medical necessity. Four meanings of medical necessity predominated: “what doctors and hospitals do”; “the maximum we can afford”; “what is scientifically justified”; and “what is consistently funded across all provinces.“ These meanings changed with time as different stakeholder associations and governments redefined the concept of medical necessity to achieve different policy objectives for health service coverage under Canada's health insurance program.
Though addictions to substances including alcohol are highly heritable, there have been no studies regarding the possible applicability of genetic counseling to this set of conditions. Adults (≥18 years old) with a personal and/or family history of alcohol addiction were recruited to participate in an online survey-based study comprising 43 questions about beliefs/concern about recurrence risk and etiology of alcohol addiction and its impact on childbearing decisions, and perceptions of potential utility of genetic counseling for alcohol addiction. We applied primarily descriptive statistics, but also tested the hypotheses that perceiving genetic counseling to be useful would be associated with: 1) increasing importance attributed to genetics in the etiology of alcohol addiction, and 2) greater concern about recurrence of alcohol addiction (in self and/or children). Overall, the 113 participants recognized the multifactorial nature of alcohol addiction but reported a wide range of estimated recurrence risks for first-degree relatives. Overall, 62% perceived genetic counseling for alcohol addiction to be potentially beneficial. Participants were more likely to perceive a benefit from genetic counseling if they were concerned about recurrence for themselves (p = .021) or perceived genetics to be etiologically important in alcohol addiction (p = .024). Future studies are warranted to evaluate the outcomes of genetic counseling for addictions with respect to patient understanding, lifestyle modifications and psychological adaptation.
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