Browsing by Author "Scott, Susanna F."

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    Implications of Incidental Germline Findings Identified In the Context of Clinical Whole Exome Sequencing for Guiding Cancer Therapy
    (ASCO, 2020) Schneider, Bryan P.; Stout, Leigh Anne; Philips, Santosh; Schroeder, Courtney; Scott, Susanna F.; Hunter, Cynthia; Kassem, Nawal; Kiel, Patrick J.; Radovich, Milan; Medicine, School of Medicine
    PURPOSE Identification of incidental germline mutations in the context of next-generation sequencing is an unintended consequence of advancing technologies. These data are critical for family members to understand disease risks and take action. PATIENTS AND METHODS A retrospective cohort analysis was conducted of 1,028 adult patients with metastatic cancer who were sequenced with tumor and germline whole exome sequencing (WES). Germline variant call files were mined for pathogenic/likely pathogenic (P/LP) variants using the ClinVar database and narrowed to high-quality submitters. RESULTS Median age was 59 years, with 16% of patients ≤ 45 years old. The most common tumor types were breast cancer (12.5%), colorectal cancer (11.5%), sarcoma (9.3%), prostate cancer (8.4%), and lung cancer (6.6%). We identified 3,427 P/LP variants in 471 genes, and 84% of patients harbored one or more variant. One hundred thirty-two patients (12.8%) carried a P/LP variant in a cancer predisposition gene, with BRCA2 being the most common (1.6%). Patients with breast cancer were most likely to carry a P/LP variant (19.2%). One hundred ten patients (10.7%) carried a P/LP variant in a gene that would be recommended by the American College of Medical Genetics and Genomics to be reported as a result of clinical actionability, with the most common being ATP7B (2.7%), BRCA2 (1.6%), MUTYH (1.4%), and BRCA1 (1%). Of patients who carried a P/LP variant in a cancer predisposition gene, only 53% would have been offered correct testing based on current clinical practice guidelines. Of 471 mutated genes, 231 genes had a P/LP variant identified in one patient, demonstrating significant genetic heterogeneity. CONCLUSION The majority of patients undergoing clinical cancer WES harbor a pathogenic germline variation. Identification of clinically actionable germline findings will create additional burden on oncology clinics as broader WES becomes common.
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    “I’m Not Comfortable With COVID, But …”: Dilemmas and Decision-Making to Mitigate Risks Among Mothers Who Gave Birth During the COVID-19 Pandemic
    (Sage, 2024) Johnson, Nicole L.; Brann, Maria; Scott, Susanna F.; Bute, Jennifer J.; Communication Studies, School of Liberal Arts
    Individuals have faced unprecedented uncertainty and risk surrounding the COVID-19 pandemic, and decision-making dilemmas have been complicated by quickly evolving and often contradictory recommendations for staying healthy. Using tenets of problematic integration theory and risk orders theory, we analyzed interview data from 50 mothers who gave birth during the pandemic to understand how uncertainty and risk perceptions shaped their decision-making about keeping themselves and their infants healthy in the first year after birth. Results describe how some mothers in our sample made sense of their decision-making to prioritize first-order risks to their own and their family’s physical health, and other mothers prioritized second-order risks to their relationships and identities. We also discuss the social nature of mitigating risk during the COVID-19 pandemic and the catalysts for shifting risk perceptions. Theoretical and practical implications include improving public health messaging and clinical conversations to enable individuals to effectively manage social and identity needs alongside serious threats to physical health.
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    “Our Birth Experiences are What Binds Us”: Women’s Motivations for Storytelling about Birth to Build Motherwisdom
    (Taylor & Francis, 2020) Johnson, Nicole L.; Scott, Susanna F.; Brann, Maria; Communication Studies, School of Liberal Arts
    Childbirth is widely considered to be a bonding experience among women. Women often feel compelled to share their story, and this research highlights communicative and reflexive aspects of storytelling as a means for meaning-making and relationship-building. This inductive thematic analysis explored 22 women’s motivations for engaging in storytelling about birth across five focus groups and two one-on-one interviews. Findings demonstrate one primary theme, building motherwisdom, a term coined here to reflect the uniqueness of the birth storytelling context. We also identified three secondary themes for motivation to engage in birth storytelling: (1) fulfilling a sense of responsibility to share one’s story to normalize a variety of birth experiences and to listen to learn about birth, (2) empowering women, and (3) seeking validation. Women receive positive therapeutic benefit from storytelling, and this may be particularly important in maintaining and improving mental health during the postpartum period. Our work informs the environments we can create to motivate mothers to share and listen to birth stories to foster this benefit.