UNASSIGNED:据估计,在其一生中,有12.5%的女性将被诊断出患有乳腺癌,而1.10%的女性将被诊断出患有卵巢癌。虽然不太常见,具有这些突变的女性患乳腺癌/卵巢癌的风险增加11-72%,并且具有遗传性.基因检测/咨询提供了在癌症诊断之前识别BRCA1/2基因突变携带者的机会。
UNASSIGNED:通过在线国家支持小组招募了34名BRCA1/2阳性女性(有或没有乳腺癌/卵巢癌病史),以更好地了解他们的基因检测/咨询看法和经验。确认合格后,他们被邀请参加电话或网络摄像头采访。使用定性主题文本分析和描述性编码技术对访谈笔录进行了分析。
未经授权:出现了六大主题,捕捉对这些妇女的基因检测/咨询的看法和经验:1)对结果和遗传咨询的情绪反应,2)未来的建议,3)家庭团结和支持,4)医疗保健系统的经验,5)预防性关注和决定,和6)影响感知风险的来源。在第一个主题中也出现了两个子主题,被称为“前生物”,\"和\"测试直觉。\"
UNASSIGNED:参与者表示,基因检测/咨询的改善将有助于该人群中围绕优质护理的女性,包括对参与测试/咨询的医疗保健专业人员的敏感性培训,额外的教育资源,增加情感和经济支持。虽然这些建议可能是有益的,在实施之前,可能需要对不同群体进行更广泛的研究,并对不同群体进行更广泛的研究。
UNASSIGNED: It is estimated that 12.5% of women will be diagnosed with breast cancer and 1.10% with ovarian cancer during their lifetime. Although less common, women with these mutations have a 11-72% increased risk of breast/ovarian cancers and are hereditary. Genetic testing/counseling presents the opportunity to identify carriers of BRCA1/2 genetic mutations before a cancer diagnosis.
UNASSIGNED: Thirty-four BRCA1/2-positive women (with and without histories of breast/ovarian cancers) were recruited through online national support groups to gain a better understanding of their genetic testing/counseling perceptions and experiences. After confirming eligibility, they were invited to participate in either a telephone or webcam interview. Interview transcripts were analyzed using qualitative thematic text analysis and descriptive coding techniques.
UNASSIGNED: Six major themes emerged, capturing the perceptions and experiences of genetic testing/counseling for these women: 1) Emotional Reactions to Results and Genetic Counseling, 2) Future Recommendations, 3) Family Solidarity and Support, 4) Experiences with the Healthcare System, 5) Preventive Concerns and Decisions, and 6) Sources Affecting Perceived Risk. Two subthemes also emerged within the first theme, which are termed \"Pre-vivor,\" and \"Testing Intuition.\"
UNASSIGNED: Participants indicated that genetic testing/counseling improvements would be helpful for women in this population surrounding quality care, including sensitivity training for healthcare professionals involved in testing/counseling, additional educational resources, and increased emotional and financial support. Although these recommendations may be beneficial, more widespread research with greater generalizability to disparate groups may be necessary prior to implementation.