Harvard Law School, Cambridge, MA, USA.
Hum Reprod. 2013 Jun;28(6):1725-30. doi: 10.1093/humrep/det091. Epub 2013 Apr 14.
How do genetics professionals assess the potential benefits and challenges of expanded carrier screening (ECS) in reproductive healthcare?
Genetics professionals believe that current ECS products have major limitations and are not ready for routine use in reproductive healthcare.
Non-targeted approaches to carrier screening have been met with uneven enthusiasm from relevant professional organizations. With declining genotyping costs, it is reasonable to expect that the number of genetic conditions evaluated by carrier-screening products will continue to increase. Reproductive healthcare providers will play a critical role in the adoption of ECS and need to be prepared for the potential challenges that lie ahead.
STUDY DESIGN, SIZE, DURATION: Focus groups were convened at six academic medical centers in the USA in March 2011 to examine genetics professionals' views on ECS.
PARTICIPANTS/MATERIALS, SETTING, METHODS: Forty genetic professionals participated in six focus groups for this study. A clinical case report was presented to each focus group to examine participants' opinions about the use of highly multiplexed forms of carrier screening in reproductive healthcare. Focus group transcripts were analyzed for major themes and thematic density across sites using qualitative data analysis software (ATLAS.ti v5.8).
Participants believed that current ECS products have major limitations pertaining to the analysis of select alleles and genetic mutations. Participants highlighted multiple interpretive and counseling challenges that reproductive healthcare providers may face in communicating ECS results to patients. Participants stressed the importance of communicating these and other limitations to patients before recommending ECS. Participants recommended collaboration with genetic counselors and medical geneticists in providing ECS.
LIMITATIONS, REASONS FOR CAUTION: To the extent that ECS products have not been widely used to date, participants may have had limited familiarity and direct clinical experience with these products. Given that this study was conducted with genetic professionals from academic medical centers in the USA, participant perspectives may not be representative of professional practices and norms in other healthcare settings.
In considering the use of ECS products in their practices, reproductive healthcare providers may find it helpful to consider the perspectives of genetics professionals. These specialists have considerable experience with diverse forms of genetic testing and can provide valuable insights regarding new genomic risk assessment tools such as ECS.
基因专业人员如何评估生殖保健中扩展携带者筛查（ECS）的潜在益处和挑战？
基因专业人员认为，目前的 ECS 产品存在重大局限性，尚未准备好在生殖保健中常规使用。
非靶向携带者筛查方法受到相关专业组织的不同程度欢迎。随着基因分型成本的降低，预计通过携带者筛查产品评估的遗传疾病数量将继续增加。生殖保健提供者将在 ECS 的采用中发挥关键作用，并且需要为未来可能面临的挑战做好准备。
研究设计、规模、持续时间：2011 年 3 月，在美国六所学术医疗中心召集了焦点小组，以研究基因专业人员对 ECS 的看法。
参与者/材料、地点、方法：本研究共有 40 名基因专业人员参加了六组焦点小组。向每个焦点小组提交了一份临床病例报告，以研究参与者对生殖保健中使用高通量形式的携带者筛查的意见。使用定性数据分析软件（ATLAS.ti v5.8）在各站点之间对焦点小组记录进行了主要主题和主题密度的分析。
参与者认为，目前的 ECS 产品在分析某些等位基因和基因突变方面存在重大局限性。参与者强调了生殖保健提供者在向患者传达 ECS 结果时可能面临的多个解释和咨询挑战。参与者强调在向患者推荐 ECS 之前，必须将这些问题和其他局限性传达给患者。参与者建议在提供 ECS 时与遗传咨询师和医学遗传学家合作。
局限性、谨慎的原因：就 ECS 产品迄今尚未广泛使用而言，参与者对这些产品可能缺乏熟悉和直接的临床经验。鉴于这项研究是在美国学术医疗中心的基因专业人员中进行的，参与者的观点可能无法代表其他医疗保健环境中的专业实践和规范。
在考虑在实践中使用 ECS 产品时，生殖保健提供者可能会发现考虑基因专业人员的观点很有帮助。这些专家在各种形式的基因测试方面拥有丰富的经验，可以为 ECS 等新的基因组风险评估工具提供宝贵的见解。
