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Preferences for learning different types of genome sequencing results among young breast cancer patients: Role of psychological and clinical factors.

ABSTRACT: The growing importance of genome sequencing means that patients will increasingly face decisions regarding what results they would like to learn. The present study examined psychological and clinical factors that might affect these preferences. 1,080 women diagnosed with breast cancer at age 40 or younger completed an online survey. We assessed their interest in learning various types of genome sequencing results: risk of preventable disease or unpreventable disease, cancer treatment response, uncertain meaning, risk to relatives' health, and ancestry/physical traits. Multivariable logistic regression was used to examine whether being "very" interested in each result type was associated with clinical factors: BRCA1/2 mutation status, prior genetic testing, family history of breast cancer, and psychological factors: cancer recurrence worry, genetic risk worry, future orientation, health information orientation, and genome sequencing knowledge. The proportion of respondents who were very interested in learning each type of result ranged from 16% to 77%. In all multivariable models, those who were very interested in learning a result type had significantly higher knowledge about sequencing benefits, greater genetic risks worry, and stronger health information orientation compared to those with less interest (p-values < .05). Our findings indicate that high interest in return of various types of genome sequencing results was more closely related to psychological factors. Shared decision-making approaches that increase knowledge about genome sequencing and incorporate patient preferences for health information and learning about genetic risks may help support patients' informed choices about learning different types of sequencing results.

SUBMITTER: Kaphingst KA

PROVIDER: S-EPMC6065546 | biostudies-literature | 2018 Jan

REPOSITORIES: biostudies-literature

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Preferences for learning different types of genome sequencing results among young breast cancer patients: Role of psychological and clinical factors.

Kaphingst Kimberly A KA Ivanovich Jennifer J Lyons Sarah S Biesecker Barbara B Dresser Rebecca R Elrick Ashley A Matsen Cindy C Goodman Melody M

Translational behavioral medicine 20180101 1

The growing importance of genome sequencing means that patients will increasingly face decisions regarding what results they would like to learn. The present study examined psychological and clinical factors that might affect these preferences. 1,080 women diagnosed with breast cancer at age 40 or younger completed an online survey. We assessed their interest in learning various types of genome sequencing results: risk of preventable disease or unpreventable disease, cancer treatment response, u ...[more]

PMID: 29385583

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Project description:Different phenotypes of normal cells might influence genetic profiles, epigenetic profiles, and tumorigenicities of their transformed derivatives. In this study, we investigate whether the whole mitochondrial genome of immortalized cells can be attributed to the different phenotypes (stem vs. non-stem) of their normal epithelial cell originators. To accurately determine mutations, we employed Duplex Sequencing, which exhibits the lowest error rates among currently-available DNA sequencing methods. Our results indicate that the vast majority of the observed mutations of the whole mitochondrial DNA occur at low-frequency (rare mutations). The most prevalent rare mutation types are C→T/G→A and A→G/T→C transitions. Frequencies and spectra of homoplasmic point mutations are virtually identical between stem cell-derived immortalized (SV1) cells and non-stem cell-derived immortalized (SV22) cells, verifying that both cell types were derived from the same woman. However, frequencies of rare point mutations are significantly lower in SV1 cells (5.79 × 10-5) than in SV22 cells (1.16 × 10-4). The significantly lower frequencies of rare mutations are aligned with a finding of longer average distances to adjacent mutations in SV1 cells than in SV22 cells. Additionally, the predicted pathogenicity for rare mutations in the mitochondrial tRNA genes tends to be lower (by 2.5-fold) in SV1 cells than in SV22 cells. While four known/confirmed pathogenic mt-tRNA mutations (m.5650 G>A, m.5521 G>A, m.5690 A>G, m.1630 A>G) were identified in SV22 cells, no such mutations were observed in SV1 cells. Our findings suggest that the immortalization of normal cells with stem cell features leads to decreased mitochondrial mutagenesis, particularly in RNA gene regions. The mutation spectra and mutations specific to stem cell-derived immortalized cells (vs. non-stem cell derived) have implications in characterizing the heterogeneity of tumors and understanding the role of mitochondrial mutations in the immortalization and transformation of human cells.

Project description:ImportanceYoung children's screen time increased during the COVID-19 lockdown in 2020, but it is unknown whether their screen time returned to prepandemic levels in 2021. Knowledge of the relationship between screen time and child development and health will inform prevention and intervention targets and strategies.ObjectiveTo evaluate screen time by family income and race and ethnicity in the prepandemic (ie, 2018, 2019) and pandemic (ie, 2020, 2021) periods and to examine the relationship between screen time and psychological well-being among young children in the US.Design, setting, and participantsCross-sectional population-based web or mail survey study of 2018-2021 National Survey of Children's Health participants aged 6 months to 5 years.ExposureDaily screen time (<1, 1, 2, 3, or ≥4 h/d) reported by participants' primary caregivers.Main outcomes and measuresFlourishing and externalizing behaviors, as indicators of psychological well-being. All analyses were weighted, accounting for the complex survey sample design.ResultsOf the 48 775 participants (50.7% female), the proportion of those with high screen time (defined as ≥1 h/d for children aged 6 months-1 year and ≥2 h/d for children aged 2-5 years) was 48.5% (95% CI, 46.3%-50.7%) in 2018, 49.2% (95% CI, 47.0%-51.5%) in 2019, 55.3% (95% CI, 53.4%-57.2%) in 2020, and 50.0% (95% CI, 48.3%-51.6%) in 2021. Among children living in poverty (federal poverty level <100%), the proportion of those with high screen time was 48.7% (95% CI, 42.8%-54.6%) in 2018, 52.0% (95% CI, 45.4%-58.6%) in 2019, 60.9% (95% CI, 55.4%-66.4%) in 2020, and 58.9% (53.7%-64.1%) in 2021. Adjusted odds ratio of flourishing was 0.66 (95% CI, 0.51-0.85), 0.81 (95% CI, 0.66-0.99), 0.68 (95% CI, 0.52-0.88), and 0.53 (95% CI, 0.42-0.69) for less than 1, 2, 3, and 4 or more hours per day vs 1 hour per day of screen time, respectively, among children aged 3 to 5 years. No association between screen time and flourishing was found among children aged 6 months to 2 years. An adjusted externalizing behavior score was higher by 0.2 points (95% CI, -0.1 to 0.5), 0.5 points (95% CI, 0.3 to 0.8), 1.3 points (95% CI, 1.0 to 1.6), and 2.1 points (95% CI, 1.7 to 2.5) for less than 1, 2, 3, and 4 or more hours per day vs 1 hour per day of screen time, respectively, among children aged 3 to 5 years.Conclusions and relevanceIn this multiyear cross-sectional study of a representative sample of young children in the US, the increased prevalence of high screen time in 2020 returned to prepandemic levels in 2021; however, it remained elevated in children living in poverty. Two hours or more of daily screen time was associated with lower psychological well-being among preschool-aged children.

Dataset Information

Preferences for learning different types of genome sequencing results among young breast cancer patients: Role of psychological and clinical factors.

Publications

Preferences for learning different types of genome sequencing results among young breast cancer patients: Role of psychological and clinical factors.

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