Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: Carrier detection in childhood: a need for policy reform | Ross Genome Medicine 2010 2 25 http content 2 4 25 COMMENTARY L__ Carrier detection in childhood a need for policy reform Lainie Friedman Ross Abstract Current policy statements discourage identification of disease carrier status in minors on the grounds that carrier information is of mainly reproductive significance. Such policies fail to consider that the carrier state may have important health implications for minors. They also fail to consider that carrier status of newborns is routinely discovered as an incidental finding in newborn screening programs. Finally such policies fail to take into account that it may not be parents but adolescents who are seeking out this information and that adolescence may be a valid time to learn about one s reproductive risks. Here I consider the issues that need to be addressed in revising current policies about the carrier detection of minors. Carrier identification in newborn screening In 1994 the UK Clinical Genetics Society published a report in which it stated that the working party would make a presumption against testing children to determine their carrier status where this would be of purely reproductive significance to the child in the future 1 . The following year the American Society of Human Genetics and the American College of Medical Genetics issued a joint statement in which they came to the same conclusion If the medical or psychosocial benefits of a genetic test will not accrue until adulthood as in the case of carrier status or adult-onset diseases genetic testing generally should be deferred 2 . Neither of these statements considered the fact that the most common genetic screening program in pediatrics newborn screening NBS was or would soon routinely identify carriers. NBS for phenylketonuria began in the 1960s in both countries and hypothyroidism was added in the 1970s in the US and in 1981 in the UK. Both were Correspondence lross@ Department of Pediatrics University
