Evaluation of proband adherence and satisfaction with a prospective cascade testing protocol.

2021 ◽  
Vol 39 (15_suppl) ◽  
pp. 10593-10593
Author(s):  
Maria Smith ◽  
Kristina Hwang ◽  
Julia Anne Smith ◽  
Bhavana Pothuri
Keyword(s):  
Genetic Testing ◽  
Family Members ◽  
Germline Mutations ◽  
Impact Of Event Scale ◽  
Cancer History ◽  
Event Scale ◽  
Cascade Testing ◽  
Cancer Breast ◽  
Education Status ◽  
Household Incomes

10593 Background: We sought to evaluate the feasibility of a Cascade Testing (CT) protocol for family members of probands with actionable germline mutations associated with endometrial or ovarian cancer. Here, we characterize proband compliance with contacting family members for CT and proband satisfaction/regret. Methods: In this prospective study, consenting patients with pathogenic germline mutations associated ovarian or endometrial cancer completed a demographic survey and were asked to contact first- and second-degree relatives with genetic testing results. After a 1–3-month period, probands completed a survey indicating how many relatives had been contacted. At 3 months following consent, probands were asked to complete the validated Impact of Event Scale (IES) and Decision Regret Scales (DRS). Characteristics of probands who contacted relatives and those who did not were compared. Results: The study has accrued 57 probands since opening in March 2019. Germline mutations identified in the 57 probands include 27 BRCA1 (47.4%); 21 BRCA2 (36.8%); 3 BRIP1 (5.3%); 2 MLH1 (3.5%); 2 MSH2 (3.5%); 3 MSH6 (5.3%); 3 PMS2 (5.3%); 1 EPCAM (1.8%); 1 RAD50 (1.8%). Twenty-four (42.1%) probands had a history of cancer (breast 12; ovarian 8; uterine 2; other 5). Of the probands, 32 (56.1%) completed follow-up questionnaires and 29 (50.9%) had contacted relatives about participating in CT. In total, 67 relatives were contacted. Probands contacted an average of 1 relative, ranging from 1-20. Of the 29 probands who contacted relatives, 13 (44.8%) completed IES and DRS questionnaires. The median IES score was 0 out of 75 (IQR 0.0-4.5) and the median DRS score was 0 out of 100 (IQR 0.0-11.3). When comparing characteristics of probands who contacted relatives with those who did not, those with annual household incomes <$75,000 were more likely to contact relatives vs those with incomes ≥$75,000 (77.8% vs 39.5%; p=0.01). There was no association between contacting relatives and personal cancer history, race/ethnicity, education status, or age (Table). Conclusions: Half of probands enrolled in this study contacted relatives about CT, and those with household incomes <$75,000 were more likely to contact relatives than those with higher incomes. Overall, probands reported little/no regret or distress after contacting relatives about genetic testing results.[Table: see text]

Using the Impact of Event Scale to Evaluate Distress in the Context of Genetic Testing for Breast Cancer Susceptibility

2006 ◽  
Vol 98 (3) ◽  
pp. 873-881 ◽  
Author(s):  
Michel Dorval ◽  
Mélanie Drolet ◽  
Mélanie LeBlanc ◽  
Elizabeth Maunsell ◽  
Michel J. Dugas ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Genetic Testing ◽  
Cancer Susceptibility ◽  
Breast Cancer Susceptibility ◽  
Impact Of Event Scale ◽  
Event Scale ◽  
The Impact

The impact of bereavement support on psychological distress in family members: a systematic review and meta-analysis

2021 ◽  
Vol 23 (2) ◽  
pp. 225-233
Author(s):  
*Louise I Rait ◽  
◽  
*Nikki Y Yeo ◽  
*Equal first authors ◽  
Yasmine Ali Abdelhamid ◽  
...  
Keyword(s):  
Systematic Review ◽  
Psychological Distress ◽  
Meta Analysis ◽  
Family Members ◽  
Risk Of Bias ◽  
Bereavement Support ◽  
Impact Of Event Scale ◽  
Event Scale ◽  
Bereaved Family ◽  
The Impact

BACKGROUND: Persistent psychological distress occurs frequently in family members of patients who die in an intensive care unit (ICU). OBJECTIVE: To determine the effectiveness of bereavement interventions in reducing persisting psychological distress in bereaved family members after death in an adult ICU. DESIGN: Systematic review and meta-analysis of studies that assessed the effect of bereavement interventions on persisting psychological distress in bereaved family members of ICU patients. DATA SOURCES: MEDLINE and APA Psycinfo databases were searched until April 2020. REVIEW METHODS: Two of us independently screened titles and abstracts of identified studies, and then completed full text evaluation of selected studies. We assessed risk of bias using version 2 of the Cochrane risk-of-bias tool for randomised trials and the Newcastle-Ottawa Scale, which is designed to assess the quality of non-randomised studies in meta-analyses. We also used random effects meta-analysis to assess the effect of various interventions on total Hospital Anxiety and Depression Scale (HADS) scores. RESULTS: From 664 citations, five studies were included — three multicentre randomised clinical trials and two single centre observational studies. Three studies tested the intervention of written bereavement support materials and two studies used narration of family members' experiences in the ICU. All studies reported HADS scores. Scores for Impact of Event Scale, Impact of Event Scale–Revised and Inventory of Complicated Grief were measured in some but not all studies. There was no effect of an intervention on HADS scores (weighted mean difference, −0.79 [95% confidence interval, −3.81 to 2.23]; Ι2 = 65.8%). CONCLUSIONS: Owing to limited data, and clinical and statistical heterogeneity, there is considerable uncertainty regarding whether bereavement support strategies reduce, increase or have no effect on psychological distress in bereaved family members.

Frequency of familiar cancer in a cohort of newly-diagnosed patients with colorectal cancer

2006 ◽  
Vol 24 (18_suppl) ◽  
pp. 13588-13588
Author(s):  
R. Lastra ◽  
A. Yubero ◽  
M. Ortega ◽  
J. Lambea ◽  
A. Elena ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Colorectal Cancer ◽  
Genetic Testing ◽  
Family Members ◽  
University Hospital ◽  
Newly Diagnosed ◽  
Breast Cancer Patients ◽  
Degree Relative ◽  
Cancer History ◽  
History Of

13588 Background: Incidence on Hereditary Non Poliposis Colorectal Cancer (HNPCC) is 3–5% of all colorectal cancers (CRC). Primary identification of patients (p) with high risk of this hereditary syndrome is the first step before genetic testing for MSH2, MLH1 or MSH6 mutations. AIMS: To determine the frequency of family history of CRC in our population Methods: We have assessed cancer history (full family pedigree, including at least 2 generations of ascendants plus all descendants) in a cohort of 100 newly-diagnosed p with CRC cancer seen as first visit at the Division of Medical Oncology of the University Hospital of Zaragoza, Spain, from 2005. We have used the revised Bethesda Guideline for HNPCC published in JNCI (Vol 96. Feb 2004) Results: Median age was 72 (range: 26 - 85). 29 females/71 males. Considering Bethesda criteria for genetic testing, percentages of families fulfilling them were: Cancer before age 50: 7 (7%), synchronous/metachronous cancer: 1 (1%), other HNPCC associated tumors before age 50: 1 (ovarian 1%), One first-degree relative with HPNCC related tumor before age 50: 4 (4%), Two or more family members with HNPCC related cancer: 5 (5%). Overall, 14 (14%) fulfilled at least 1 of these criteria. Number of cases of tumors in the family (for a total of 909 family members) was 82, 10 cases of breast cancer, 23 of colorectal, 6 of gastric, 5 of prostate, 3 gynecologic, 11 lung, and 21 others. Conclusions: Frequency of familiar CC in unselected breast cancer patients of Zaragoza, Spain, is substantially higher than that expected. Assessment of cancer familiar history in the newly-diagnosed patients with CC cancer, helps us to identify families in which a genetic study is to be considered, and this could be useful to prevent new case of cancer. No significant financial relationships to disclose.

Communication of genetic testing results and cascade testing among Mexican carriers of cancer-associated variants and their families.

2020 ◽  
Vol 38 (15_suppl) ◽  
pp. e13541-e13541
Author(s):  
Yanin Chavarri Guerra ◽  
Andrés Rodríguez-Faure ◽  
Laura Margarita Bolano Guerra ◽  
Jose Luis Rodriguez Olivares ◽  
Jazmin Arteaga ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Latin American ◽  
Family Involvement ◽  
Medical Information ◽  
Cancer Genomics ◽  
Family Members ◽  
Research Network ◽  
Community Research ◽  
Cascade Testing ◽  
Results Disclosure

e13541 Background: Most hereditary cancer syndromes exhibit autosomal dominant inheritance. Therefore, communicating results to family members and performing cascade testing is crucial in order to identify individuals at risk and offer them appropriate risk-reducing strategies. The process of communicating medical information within families is highly variable and might be affected by several factors (including culture, education, understanding of results, and family conflicts) which remain understudied among individuals living in developing countries. We sought to investigate communication of results and cascade testing reach within the families of Mexican individuals carrying cancer-associated pathogenic variants (PVs). Methods: Individuals seen at a single center in Mexico City carrying a cancer-associated PV and enrolled in the Clinical Cancer Genomics Community Research Network (CCGCRN) were included. Carriers received genetic counseling at the time of results disclosure, a family letter was provided to facilitate the communication of results, and cascade testing was offered. After >3 months from results disclosure, participants were surveyed regarding genetic testing results communication patterns, performance of cascade testing, and surveillance behaviors. Data was analyzed using descriptive statistics. Results: Among 354 probands, 53 (15%) were identified as carriers of a cancer-associated PV. Mean age was 48.3 (range 21-82) years. Cascade testing (≥1 family member) was initiated in 74% of families (n = 39), with a median of 3 (range 0-16) family members tested per proband. 53 carriers responded the survey (29 probands and 24 relatives). 98% (n = 43) had shared results with their family, and 53% (24/45) had shared them with their treating physicians. Most respondents were receiving active surveillance (n = 36, 80%); with 43% (n = 15) reporting having at least one barrier for complying with surveillance (financial: n = 8; distance to the hospital: n = 3). Around half of the carriers perceived their cancer risk to be of ≥50%. Conclusions: Our results show that both the communication of genetic testing results and the proportion of cascade testing within Mexican families are high. Family involvement in health care decision-making is common in Mexico, as in other Latin American countries, which might lead to improved family communication. However, strategies to improve communication with providers are needed in order to tackle barriers and improve surveillance of individuals carrying cancer associated PVs.

Modifikation der IES-R zur Diagnostik posttraumatischer Belastung bei Traumatisierung durch die Diagnose Krebs

Diagnostica ◽  
2011 ◽  
Vol 57 (2) ◽  
pp. 84-98 ◽  
Author(s):  
Annette F. Bölter ◽  
Julia Lange ◽  
Bernd Anger ◽  
Christian Geiser ◽  
Heinz-Martin Süß ◽  
...  
Keyword(s):  
Posttraumatische Belastungsstörung ◽  
Impact Of Event Scale ◽  
Event Scale ◽  
Dsm Iv

Zusammenfassung. Nach DSM-IV können lebensbedrohliche Erkrankungen wie Krebs eine Posttraumatische Belastungsstörung (PTSD) auslösen. Der Erfassung mit üblichen PTSD-Diagnoseinstrumenten wie der Impact-of-Event-Scale (IES-R) mangelt es jedoch an Validität. Methodik: Ein krebsspezifisches PTSD-Konzept wurde theoriebasiert entwickelt und über die IES-R sowie neu formulierte Items erfasst. 400 Rehabilitationspatienten mit heterogenen Tumordiagnosen und Diagnosestellung vor max. einem Jahr wurden untersucht. Faktorenanalytisch (CFA) wurde ein Screeninginstrument, der Fragebogen zur krebsspezifischen posttraumatischen Belastung (PTB-KS), entwickelt. Der Reliabilitätsanalyse folgte eine Konstruktvalidierung. Ergebnis: Die statistischen Analysen unterstützen die Modellannahmen (χ2/df = 2.28; CFI = .960; RMSEA = .057). Der PTB-KS umfasst auf vier Skalen Intrusionen und Vermeidung (IES-R), krebsspezifische Belastung sowie Fehlanpassung. Reliabilität und konvergente Validität sind zufriedenstellend, die diskriminante Validität ist nicht hinreichend gesichert. Diskussion: Das erweiterte diagnostische Modell verbessert die Erfassung von posttraumatischer Belastung bei Krebspatienten. Aus klinischer Sicht eignet es sich trotz methodischer Einschränkungen als Screeninginstrument.

Confirmatory Factor Analysis of the Impact of Event Scale - Revised

2007 ◽  
Author(s):  
Robert Orazem ◽  
Claire Hebenstreit ◽  
Daniel King ◽  
Lynda King ◽  
Arieh Shalev ◽  
...  
Keyword(s):  
Factor Analysis ◽  
Confirmatory Factor Analysis ◽  
Impact Of Event Scale ◽  
Event Scale ◽  
Confirmatory Factor ◽  
The Impact

Impact of Event Scale--Revised

1997 ◽  
Author(s):  
Daniel S. Weiss ◽  
Charles R. Marmar
Keyword(s):  
Impact Of Event Scale ◽  
Event Scale

Frequency and characterization of mutations in genes in a large cohort of patients referred to MODY registry

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Emily Breidbart ◽  
Liyong Deng ◽  
Patricia Lanzano ◽  
Xiao Fan ◽  
Jiancheng Guo ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Exome Sequencing ◽  
Large Scale ◽  
Age Of Onset ◽  
Family Members ◽  
Ethnically Diverse ◽  
Monogenic Diabetes ◽  
Diabetes Diagnosis ◽  
Pathogenic Variants ◽  
Atypical Diabetes

Abstract Objectives There have been few large-scale studies utilizing exome sequencing for genetically undiagnosed maturity onset diabetes of the young (MODY), a monogenic form of diabetes that is under-recognized. We describe a cohort of 160 individuals with suspected monogenic diabetes who were genetically assessed for mutations in genes known to cause MODY. Methods We used a tiered testing approach focusing initially on GCK and HNF1A and then expanding to exome sequencing for those individuals without identified mutations in GCK or HNF1A. The average age of onset of hyperglycemia or diabetes diagnosis was 19 years (median 14 years) with an average HbA1C of 7.1%. Results Sixty (37.5%) probands had heterozygous likely pathogenic/pathogenic variants in one of the MODY genes, 90% of which were in GCK or HNF1A. Less frequently, mutations were identified in PDX1, HNF4A, HNF1B, and KCNJ11. For those probands with available family members, 100% of the variants segregated with diabetes in the family. Cascade genetic testing in families identified 75 additional family members with a familial MODY mutation. Conclusions Our study is one of the largest and most ethnically diverse studies using exome sequencing to assess MODY genes. Tiered testing is an effective strategy to genetically diagnose atypical diabetes, and familial cascade genetic testing identified on average one additional family member with monogenic diabetes for each mutation identified in a proband.

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