scholarly journals Descriptive study on subjective experience of genetic testing with respect to relationship, family planning and psychosocial wellbeing among women with lynch syndrome

2021 ◽  
Vol 19 (1) ◽  
Author(s):  
Mari Kalamo ◽  
Johanna Mäenpää ◽  
Toni Seppälä ◽  
Jukka-Pekka Mecklin ◽  
Kirsi Pylvänäinen ◽  
...  
Keyword(s):  
Body Image ◽  
Genetic Testing ◽  
Family Planning ◽  
Lynch Syndrome ◽  
Intimate Relationships ◽  
Negative Impact ◽  
Pathogenic Variant ◽  
Psychosocial Wellbeing ◽  
Feminine Self ◽  
Germline Testing

Abstract Background Due to increased risk of endometrial and ovarian cancer, women belonging to known Lynch Syndrome (LS) families are recommended to undergo germline testing. Current practice in Finland is to offer counselling to women with pathogenic variant and advocate risk-reducing surgery (RRS) after completion of childbirth. The present study aimed to clarify the impacts of positive germline testing on family planning and reproductive decisions of these women, which are relatively unknown. Methods Seventy-nine carriers of germline MMR gene pathogenic variant (path_MMR) were identified from the Finnish LS Registry as having genetic testing performed before the age of 45 years and not having undergone hysterectomy or oophorectomy. These women were sent a questionnaire concerning family planning, intimate relationships and psychosocial wellbeing. Results Thirty-five women (44.3%) responded. Parity of path_MMR carriers (2.1) was slightly higher than parity among Finnish women in general (1.8). No significant differences were found between parity, number of induced abortions or sterilizations before and after genetic testing. Only minority of subjects reported any influence on family planning (20%) or negative impact on feminine self and body image (14%). Conclusions The positive germline testing does not seem to have a major negative impact on family planning, intimate relationships or feminine self and body image. According to the open comments, counselling, supportive and empathic attitude of the professionals seem to have a significant impact on this. These results are a valuable addition to the counselling of LS women at reproductive age.

scholarly journals Pathogenic Variants in Less Familiar Cancer Susceptibility Genes: What Happens After Genetic Testing?

2018 ◽  
pp. 1-10
Author(s):  
Evan T. Hall ◽  
Divya Parikh ◽  
Jennifer L. Caswell-Jin ◽  
Tanya Gupta ◽  
Meredith A. Mills ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Lynch Syndrome ◽  
Cancer Susceptibility ◽  
Susceptibility Gene ◽  
Susceptibility Genes ◽  
Pathogenic Variant ◽  
Pathogenic Variants ◽  
Cancer Susceptibility Genes ◽  
Risk Reducing

Purpose As genetic testing expands, patients are increasingly found to carry pathogenic variants in cancer susceptibility genes that are less familiar to most clinicians, specifically genes other than those causing hereditary breast ovarian cancer syndrome ( BRCA1 and BRCA2) and Lynch syndrome. Little is known about the subsequent behaviors of such patients in terms of managing cancer risks and informing relatives. Methods All adult patients who were counseled and tested at the Stanford Cancer Genetics Clinic from January 2013 to July 2015 and had a pathogenic variant in a non- BRCA1/2, non–Lynch syndrome gene were invited to participate in a telephone interview about adherence to risk-reducing recommendations, genetic testing by relatives, and new cancer incidence. Results Fifty-seven (40%) of 142 eligible patients were successfully contacted, and all 57 patients participated; median follow-up was 677 days (range, 247 to 1,401 days). Most patients (82%; 95% CI, 70% to 90%) recalled that a risk-reducing intervention (screening, medication, or surgery) was recommended, and most patients (85%; 95% CI, 72% to 93%) adhered to the recommendation. Nearly all patients (91%; 95% CI, 81% to 97%) shared results with relatives, and most patients (78%; 95% CI, 64% to 88%) reported that a relative was subsequently tested. During the follow-up period, 9% of patients (95% CI, 3% to 19%) developed second cancers, and in 14% of patients (95% CI, 7% to 26%), a first-degree relative developed cancer, some of which were detected by recommended screening. Conclusion Patients with a pathogenic variant in a less familiar cancer susceptibility gene report high adherence to risk-reducing interventions. Furthermore, in the 57 carriers and subsequently tested relatives with two years of follow-up, a total of three cancers (one in a proband and two in relatives) were detected through interventions recommended on the basis of the pathogenic variant. These results suggest a potential benefit of genetic counseling and testing for pathogenic variants in less familiar genes.

scholarly journals Construct and Criterion Validity of the Short Form-6D Utility Measure in Patients with Systemic Lupus Erythematosus

2012 ◽  
Vol 39 (4) ◽  
pp. 735-742 ◽  
Author(s):  
MARK J. HARRISON ◽  
YASMEEN AHMAD ◽  
SAHENA HAQUE ◽  
NICOLA DALE ◽  
LEE-SUAN TEH ◽  
...  
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Body Image ◽  
Disease Activity ◽  
Lupus Erythematosus ◽  
Intimate Relationships ◽  
Carotid Plaque ◽  
Short Form ◽  
Criterion Validity ◽  
Systemic Lupus ◽  
Disease Specific

Objective.Preference-based measures, such as the Short Form-6D (SF-6D), allow quality-adjusted life-years, used in cost-utility evaluations, to be calculated. We investigated the construct and criterion validity of the SF-6D in patients with systemic lupus erythematosus (SLE).Methods.Female patients with SLE were recruited from outpatient clinics at 2 timepoints, 5 years apart. Cross-sectional correlation of the SF-6D with domains of the disease-specific LupusQol health-related quality of life (HRQOL) measure, the Systemic Lupus International Collaborating Clinics Damage Index (SDI; for damage) and Systemic Lupus Erythematosus Disease Activity Index (SLEDAI; for activity) measures, and patient characteristics was tested. The ability to discriminate between groups defined by smoking status, presence/absence of carotid plaque, depression, and fatigue was tested using the t-test.Results.In total 181 patients were recruited at baseline. The SF-6D correlated moderately to strongly with all domains of the LupusQoL (0.6–0.8) apart from intimate relationships (0.42) and body image (0.34). Correlations of the SF-6D with the demographic and disease-specific measures at baseline were small for the SDI score (−0.23) and age (−0.19) and in the expected direction. The SF-6D did not correlate with disease activity (SLEDAI −0.08). The SF-6D could distinguish those who smoked, had carotid plaque, had depression, and reported fatigue from those who did not, with the largest effect size being for depression (0.75).Conclusion.The SF-6D displays construct and criterion validity for use in patients with SLE, but the low correlation with aspects of intimate relationships and body image represents a concern and reinforces the need to collect disease-specific measures of HRQOL alongside generic preference-based instruments.

scholarly journals Implementation of an embedded in‐clinic genetic testing station to optimize germline testing for patients with pancreatic adenocarcinoma

2021 ◽  
Author(s):  
Evan J. Walker ◽  
Dena Goldberg ◽  
Kelly M Gordon ◽  
Christina Pedley ◽  
Julia Carnevale ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Pancreatic Adenocarcinoma ◽  
Germline Testing

Clinical impact of medical policy supporting universal germline testing for patients with colorectal cancer.

2021 ◽  
Vol 39 (15_suppl) ◽  
pp. 10514-10514
Author(s):  
Sarah M. Nielsen ◽  
Joline Dalton ◽  
Kathryn E. Hatchell ◽  
Stacey DaCosta Byfield ◽  
Chad Moretz ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Genetic Testing ◽  
Clinical Information ◽  
The United States ◽  
Clinical Treatment ◽  
Administrative Claims ◽  
Treatment Trials ◽  
Precision Therapy ◽  
Medical Policy ◽  
Germline Testing

10514 Background: Colorectal cancer (CRC) affects approximately 104,000 patients (pts) annually in the United States, up to 45% of which are estimated to be genetic and/or familial. Aligned with clinical guidelines, in 2020, a large U.S. insurer established Medical Policy allowing for and reimbursing germline genetic testing (GGT) for all CRC pts. This study reports overall uptake of GGT in CRC pts under this inclusive policy, actionable findings and treatment implications for pts tested, stratified by self-reported ancestry/ethnicity. Methods: Two independent de-identified datasets were reviewed, including administrative claims data of commercially insured and Medicare Advantage enrollees, aged 18+ with CRC (≥1 claim with ICD10 C18, C19 or C20 in the first position) who were continuously enrolled (CE) in the health plan from 1/2019-10/2020. Evidence of genetic testing based on CPT codes, was examined during 2020. A second de-identified dataset of CRC pts whose GGT was billed to the insurer under the Medical Policy, was also reviewed. Patient demographics, clinical information and GGT results were descriptively analyzed. Results: Of the >18,000,000 CE enrollees, 55,595 were identified as CRC pts, of whom 1,675 (3%) received GGT. From the GGT dataset, 788 pts had test results available for review. 143 (18%) pts had pathogenic/likely pathogenic (P/LP) variants in genes including MSH2, MLH1, PMS2, MSH6, CHEK2, APC, BRCA2, ATM, MUTYH (biallelic). Of pts with P/LP variants, 96 (67%) were potentially eligible for precision therapy and/or clinical treatment trials. Overall, 133 (93%) had P/LP variants in genes with precision therapy, clinical trial and/or published management implications. In a subset of pts (n=674) with ethnicity data; Asian, Black/African-American and Hispanic pts showed lower relative uptake of germline testing than Caucasians (Table). Conclusions: Despite Medical Policy allowing for GGT for all pts with CRC, only 3% of eligible pts received testing. If all CRC pts had been tested, these data suggest up to 6,705 pts with P/LP variants conferring potential eligibility for precision therapy (PD-1/PD-L1 inhibitors) or clinical treatment trials (PARP inhibitors), and an additional 2,602 pts with mutations in genes with published management recommendations, could have been identified, but were missed. Additional research is needed to identify obstacles to systematic implementation of this Medical Policy, the best timing of GGT to prevent CRC and improve access to underrepresented populations. CRC patients with germline genetic testing.[Table: see text]

scholarly journals Is there evidence that we should screen the general population for Lynch syndrome with genetic testing? A systematic review

2017 ◽  
Vol Volume10 ◽  
pp. 49-60 ◽  
Author(s):  
Anya Prince ◽  
Jean Cadigan ◽  
Gail Henderson ◽  
James Evans ◽  
Michael Adams ◽  
...  
Keyword(s):  
Systematic Review ◽  
Genetic Testing ◽  
General Population ◽  
Lynch Syndrome

scholarly journals Social anxiety symptoms and body image dissatisfaction in medical students: prevalence and correlates

2018 ◽  
Vol 67 (2) ◽  
pp. 65-73 ◽  
Author(s):  
Jacqueline M. Oliveira Regis ◽  
Ana Teresa A. Ramos-Cerqueira ◽  
Maria Cristina P. Lima ◽  
Albina R. Torres
Keyword(s):  
Mental Health ◽  
Body Image ◽  
Depressive Symptoms ◽  
Medical Students ◽  
Social Anxiety ◽  
Mental Health Problems ◽  
Negative Impact ◽  
Body Image Dissatisfaction ◽  
Female Sex ◽  
Making Friends

ABSTRACT Objective Social anxiety disorder (SAD) and body image dissatisfaction (BID) are common problems among college students, but few studies focused on medical students. We aimed to estimate the prevalence, severity and correlates of SAD symptoms and BID among medical students of a Brazilian public university. Methods A cross-sectional study with 479 students, using structured instruments: Social Phobia Inventory (SPIN), Body Shape Questionnaire (BSQ), and Beck Depression Inventory (BDI). Bivariate analyses were followed by logistic regression models to obtain independent predictors of SAD symptoms, BID and both outcomes combined. Results Most students were single (99%) and female (58.7%). The prevalence rates of SAD symptoms (SPIN ≥ 19) and BID (BSQ ≥ 81) were 36.3% and 34.7%, respectively. Depressive symptoms (BDI ≥ 19) occurred in 8.8% of the sample. SAD symptoms were independently associated with: BID, thoughts of abandoning the course, difficulty making friends, depressive symptoms, and mental health treatment prior to university. Besides SAD symptoms, BID was associated with female sex, difficulty making friends, depressive symptoms, and body mass index (BMI). Seventy-eight students (16.3%) presented SAD symptoms and BID, which was associated with female sex, difficulty making friends, dissatisfaction with the course, depressive symptoms and BMI. Conclusion SAD symptoms and BID are common and related problems that should be screened for among medical students. The identification of specific correlates could contribute to the elaboration of preventive measures, minimizing the distress and negative impact of these mental health problems on relationships and academic performance.

scholarly journals Psychosocial Predictors of Quality of Life in Patients With Vitiligo

2021 ◽  
Vol 36 (1) ◽  
pp. 19-36
Author(s):  
Iqra Nazar ◽  
Fatima Kamran ◽  
Afsheen Masood
Keyword(s):  
Quality Of Life ◽  
Body Image ◽  
Social Functioning ◽  
Psychological Health ◽  
Negative Impact ◽  
Life Quality ◽  
Self Esteem ◽  
Psychosocial Predictors ◽  
Impact Scale

The present study was designed to examine psychosocial predictors of quality of life (QoL) such as body image, self-esteem, impact of Vitiligo (psychologically and socially), and perceived stigmatization in patients with Vitiligo. The sample (N =120) comprised of individuals with Vitiligo recruited from dermatology units of different hospitals in Lahore. Body Image State Scale (Cash, Fleming, Alindogan, Steadman, & Whitehead 2002), Rosenberg Self-Esteem Scale (Rosenberg, 1965), Vitiligo Impact Scale (Rammam, Khaitan, Mehta, Sreenivas, & Gupta, 2014), Perceived Stigmatization Questionnaire (Lawrence, Fauerbach, Heinberg, & Thomas, 2006) and Dermatology Life Quality Index (Finlay & Khan, 1994) were used as assessment measures. Results revealed that most of the individuals with Vitiligo reported poorer perception of QoL; while, men with Vitiligo expressed better perceived QoL as compared to women. Individuals with both types of Vitiligo (lesions on exposed/unexposed regions) expressed poor body image, negative impact of Vitiligo on their psycho-social functioning, and higher levels of perceived stigmatization. Individuals with exposed Vitiligo affected regions exhibited lower self-esteem. In addition, body image, impact of Vitiligo (psychologically and socially), and perceived stigmatization (absence of friendly behavior) significantly predicted QoL. It was concluded that Vitiligo had a greater impact on individual’s psychological health and social functioning rather than physiological complications.

Evaluation of the Work Safety and Psychosocial Wellbeing of Disability Support Workers

2015 ◽  
Vol 8 ◽  
Author(s):  
Julia Harries ◽  
Ka Yiu Yoyo Ng ◽  
Leah Wilson ◽  
Neil Kirby ◽  
Jerry Ford
Keyword(s):  
Job Satisfaction ◽  
Role Conflict ◽  
Negative Impact ◽  
Work Conditions ◽  
Safety Performance ◽  
Work Safety ◽  
Support Worker ◽  
Work Related ◽  
Psychosocial Wellbeing ◽  
Disability Support

This study investigated organisational factors impacting disability support worker (DSW) psychosocial wellbeing and work safety to understand the relationship between wellbeing, using measures of burnout and job satisfaction, and work conditions and safety performance. This study also investigated factors predicting wellbeing using the Job Demand-Control-Support (JDCS) model. A sample of 87 DSWs completed normed measures of burnout, work conditions, and safety climate. Results showed DSWs experienced significantly higher personal and work-related burnout but significantly lower client-related burnout. Although the JDCS model components did not all predict any single wellbeing measure, they each predicted aspects of burnout and job satisfaction, with these wellbeing measures associated with safety performance. Findings highlighted the importance of monitoring worker job demands, support availability, and job control to improve safety performance. Compared to normative data, DSWs were experiencing significantly higher role conflict, the negative impact of which was effectively moderated by support for personal and work-related burnout and job satisfaction. Findings suggest the need to consider DSW work conditions, and particularly work practices contributing to role conflict, as well as increasing support for DSWs to prevent the development of personal and work-related burnout. Findings suggest further research associated with client-related burnout is required.

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