Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, Bethesda, MD, USA.
Research Triangle Institute, Washington DC, USA.
J Genet Couns. 2021 Dec;30(6):1582-1590. doi: 10.1002/jgc4.1424. Epub 2021 Apr 19.
Although genetic counseling is traditionally done through in-person, one-on-one visits, workforce shortages call for efficient result return mechanisms. Studies have shown that telephone and in-person return of cancer genetic results are equivalent for patient outcomes. Few studies have been conducted with other modes, result types or racially diverse participants. This study explored participants' perspectives on receiving pharmacogenomic results by mail. Two experienced moderators facilitated six focus groups with 49 individuals who self-identified primarily as African-American and consented to participate in a genome sequencing cohort study. Participants were given a hypothetical pharmacogenomic result report (positive for c.521T>C in SLCO1B1). An accompanying letter explained that the result was associated with statin intolerance along with a recommendation to share it with one's doctor and immediate relatives. Participants reacted to the idea of receiving this type of result by mail, discussing whether the letter's information was sufficient and what they predicted they would do with the result. Two researchers coded the focus group transcripts and identified themes. Many participants thought that it was appropriate to receive the result through the mail, but some suggested a phone call alerting the recipient to the letter. Others emphasized that although a letter was acceptable for disclosing pharmacogenomic results, it would be insufficient for what they perceived as life-threatening results. Most participants found the content sufficient. Some participants suggested resources about statin intolerance and warning signs be added. Most claimed they would share the result with their doctor, yet few participants offered they would share the result with their relatives. This exploratory study advances the evidence that African-American research participants are receptive to return of certain genetic results by approaches that do not involve direct contact with a genetic counselor and intend to share results with providers. ClinSeq: A Large-Scale Medical Sequencing Clinical Research Pilot Study (NCT00410241).
虽然遗传咨询传统上是通过面对面的一对一访问进行的，但劳动力短缺需要有效的结果反馈机制。研究表明，电话和面对面返回癌症遗传结果对患者结局是等效的。只有少数研究采用了其他模式、结果类型或不同种族的参与者。本研究探讨了参与者通过邮件接收药物基因组学结果的看法。两位经验丰富的主持人主持了六次焦点小组讨论，参与者共有 49 人，他们主要自认为是非裔美国人，并同意参与一项基因组测序队列研究。参与者收到了一份假设的药物基因组学结果报告（SLCO1B1 中的 c.521T>C 呈阳性）。随附的一封信解释说，该结果与他汀类药物不耐受有关，并建议将其与医生和直系亲属分享。参与者对通过邮件接收此类结果的想法做出了反应，讨论了这封信的信息是否足够充分，以及他们预测自己将如何处理该结果。两位研究人员对焦点小组的记录进行了编码，并确定了主题。许多参与者认为通过邮件接收结果是合适的，但有些参与者建议打个电话提醒收件人有这封信。还有人强调，尽管一封信可以用来披露药物基因组学结果，但对于他们认为危及生命的结果来说，这封信是不够的。大多数参与者认为内容足够充分。一些参与者建议增加关于他汀类药物不耐受和警告信号的资源。大多数人声称他们会将结果与医生分享，但很少有参与者表示会与亲戚分享结果。这项探索性研究表明，非裔美国研究参与者愿意通过不涉及与遗传咨询师直接接触的方法来接收某些遗传结果，并打算与提供者分享结果。ClinSeq：一项大规模医疗测序临床研究试点研究（NCT00410241）。
