Harriman Jamie W, Espinel Whitney F, Vagher Jennie, Gammon Amanda
Medical College of Wisconsin, Milwaukee, WI.
University of Utah, Salt Lake City, UT.
JCO Precis Oncol. 2022 Oct;6:e2100375. doi: 10.1200/PO.21.00375.
As tumor genomic profiling (TGP) is increasingly used to help guide cancer treatment, variants, which may or may not be reflective of the germline genome, are being identified. As TGP use increases, it is becoming an important tool for referral to genetic counseling and identifying patients with hereditary cancer syndromes such as hereditary breast and ovarian cancer. This study explores genetic counseling referral patterns and germline implications of patients found to have pathogenic variants identified through TGP.
Participants include patients at Huntsman Cancer Institute undergoing TGP through a single commercial laboratory between March 2014 and July 2018. A retrospective chart review was conducted for 62 patients found to have pathogenic variants (PVs) in on TGP. Data on genetic counseling referrals and uptake, germline test results, family history, and patient demographics were collected.
In the study time frame, 1,899 patients underwent TGP. Testing identified 67 PVs in (23 variants) or (44 variants) in 62 patients. Thirty-five patients first received a referral to a genetic counselor following TGP with 33 patients completing genetic counseling. Of the 30 patients who pursued germline genetic testing following TGP, 11 were discovered to have a previously unknown germline PV. Nine of these patients were the first in their family diagnosed with hereditary breast and ovarian cancer.
This study represents one institution's experience with genetic counseling referrals, uptake, and germline results following TGP. For some patients, TGP will be the first indicator of an underlying hereditary condition. Identifying patients with PVs (which may be germline) through TGP is an important new genetic counseling referral tool that can have important implications for the patient and their family.
随着肿瘤基因组分析（TGP）越来越多地用于指导癌症治疗，人们发现了一些变异，这些变异可能反映也可能不反映种系基因组。随着TGP使用的增加，它正成为转诊至遗传咨询以及识别遗传性癌症综合征（如遗传性乳腺癌和卵巢癌）患者的重要工具。本研究探讨了通过TGP发现有致病性变异的患者的遗传咨询转诊模式及种系影响。
研究对象包括2014年3月至2018年7月间在亨茨曼癌症研究所通过单一商业实验室接受TGP检测的患者。对62例经TGP检测发现有致病性变异（PVs）的患者进行了回顾性病历审查。收集了有关遗传咨询转诊及接受情况、种系检测结果、家族史和患者人口统计学数据。
在研究时间段内，1899例患者接受了TGP检测。检测在62例患者中发现了67个PVs，其中23个变异位于 ，44个变异位于 。35例患者在TGP检测后首次被转诊至遗传咨询师处，33例患者完成了遗传咨询。在TGP检测后进行种系基因检测的30例患者中，11例被发现有先前未知的种系PV。其中9例患者是其家族中首个被诊断为遗传性乳腺癌和卵巢癌的。
本研究展示了一个机构在TGP检测后的遗传咨询转诊、接受情况及种系检测结果方面的经验。对于一些患者而言，TGP将是潜在遗传性疾病的首个指标。通过TGP识别有PVs（可能是种系变异）的患者是一种重要的新型遗传咨询转诊工具，对患者及其家庭可能具有重要意义。
