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Biomedical subjects

Rowan Forbes Shepherd

Publications and source records attributed to Rowan Forbes Shepherd.

2 recordsLinked to original sources

Impact of BRCA1/2 status on young women's sexual function, relationships, and reproduction after predictive genetic testing.

The experiences and outcomes for women identified with a BRCA1/2 pathogenic variant during young adulthood are qualitatively described but not well quantified. This study investigated the impact of BRCA1/2 status on women's reproduction, intimate partner relationships, and sexual functioning. Australian women aged 18-40 years who had predictive BRCA1/2 testing, received either a positive or negative result, and had no personal cancer history, completed an online survey that used a case-control design. Outcome measures included childbearing, use of reproductive technologies, relationship status, and sexual functioning. 579 women participated (62.0% with a BRCA1/2 PV; 38.0% without a BRCA1/2 PV). More women with a BRCA1/2 PV had children compared to those who did not (49.0% c.f., 40.5%; p = 0.045). BRCA1/2 status did not predict whether women were partnered at survey completion (Odds Ratio 1.20; 95% CI 0.80, 1.78) or their sexual functioning over the previous month (β-coefficient -0.08; 95% CI -1.15, 0.98). Women with a BRCA1/2 PV were more likely to have children after genetic testing (OR 1.83: 95% CI 1.05, 3.21) and were more likely to have a greater number of children after genetic testing (β-coefficient 0.41; 95% CI 0.10, 0.73) compared to women without a BRCA1/2 PV, after adjustment for confounders. Receiving a positive predictive BRCA1/2 result is associated with an increased likelihood of childbearing and having a greater number of children compared to receiving a negative predictive BRCA1/2 result. These findings contribute to the evidence base to inform long-term follow-up for women after predictive BRCA1/2 testing.

Humans

Concerns about the consequences of cancer predisposition and relationships with quality of life in young adults with Li-Fraumeni syndrome.

Li-Fraumeni syndrome (LFS) is an inherited condition associated with high multi-organ cancer risks from birth. Young adults (YAs; 18-39 years) with LFS experience psychosocial challenges that may negatively affect health-related quality of life (HRQOL). This study aimed to describe a specific psychosocial challenge, concerns about the consequences of LFS (CC-LFS), and investigate relationships among CC-LFS and HRQOL among YAs. An online survey assessed CC-LFS and HRQOL among YAs with LFS enrolled in a National Cancer Institute study. Regression analyses examined relationships between CC-LFS and HRQOL scores, adjusted for age, cancer, and history of mental health challenges. Of 37 total respondents (78% female; Mage&#x2009;=&#x2009;31 years), 51% had a cancer history. Many reported past mental health challenges, including emotional problems (70%), depression/anxiety disorders (68%), and suicidal ideation (43%). Mean scores for mental (M&#x2009;=&#x2009;65.8), physical (M&#x2009;=&#x2009;67.5), and general (M&#x2009;=&#x2009;63.9) HRQOL were lower than in the general population. Higher CC-LFS scores (M&#x2009;=&#x2009;31/50, SD&#x2009;=&#x2009;7.2) were associated with lower scores for each HRQOL domain. Adjusting for covariates, higher CC-LFS scores were associated with lower physical HRQOL (&#x3b2;&#x2009;=&#x2009;-0.491, 95% CI -0.76, -0.22, p&#x2009;<&#x2009;0.001) and general HRQOL (&#x3b2;&#x2009;=&#x2009;-0.466, 95% CI -0.77, -0.16, p&#x2009;=&#x2009;0.004), but not mental HRQOL (p&#x2009;=&#x2009;0.102). CC-LFS accounted for significant proportions of unique variance in general (R2adj&#x2009;=&#x2009;17.7%, p&#x2009;=&#x2009;0.004) and physical HRQOL (R2adj&#x2009;=&#x2009;20.4%, p&#x2009;<&#x2009;0.001). Findings suggest YAs with LFS may experience substantial concerns, mental health challenges, and diminished HRQOL. Concerns about LFS consequences appear to be a psychosocial risk factor that clinicians and researchers might address through targeted interventions to improve YAs' psychosocial health.

Humans