A systematic review and meta‐analysis of telephone vs in‐person genetic counseling in BRCA1 / BRCA2 genetic testing

605 Background: The risks of breast and ovarian cancer associated with BRCA1 and BRCA2 mutations are well established. Investigations of the association of BRCA mutations and the risk of colorectal cancer(CRC) have yielded conflicting results. We performed a systematic review of published and unpublished studies evaluating BRCA and CRC risk, and meta-analyses to quantify overall CRC risk and in subgroups of BRCA mutation carriers. Methods: Eligible studies were retrieved from PubMed/MEDLINE, Embase, Cochrane, Scopus, and ProQuest Dissertation & Theses. Unadjusted odds ratios were used to derive pooled estimates of CRC risk overall (combined BRCA1/BRCA2) and in subgroups defined by mutation type, comparison group, and study design. Both fixed and random effects models were estimated with the latter having priority. We followed the guidelines summarized in the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) as well as the Meta-analysis of Observational Studies in Epidemiology (MOOSE) statements. Results: A total of 18 studies were included in the systematic review: 7 cohort studies comparing to the general population, 5 case-control studies, 4 cohort studies involving pedigree analysis, and 2 kin-cohort studies. Fourteen studies included in the systematic review were used in the meta-analysis. The overall BRCA1/BRCA2 meta-analysis revealed an increased CRC risk in a fixed-effects (OR = 1.22, 95%CI = 1.01-1.48, p = 0.041, I2= 19.5%) but not in a random-effects model (OR = 1.20, 95%CI = 0.96-1.50, p = 0.111). In subgroup random-effects meta-analyses, BRCA1 was associated with increased CRC risk (OR = 1.48, 95%CI = 1.13-1.94, p = 0.005, I2= 3.7%) but BRCA2 was not. Analyses stratified by study design and comparator found no association between BRCA mutation and CRC risk (all 95%CIs crossing 1, all p > 0.05). Conclusions: Although studies differed in their findings about the association between BRCA mutations and CRC risk, meta-analyses revealed a potential 1.22-fold greater risk of CRC in BRCA mutation carriers. This elevated CRC risk was attributable largely to a 1.48-fold greater risk in BRCA1 mutation but not in BRCA2 carriers, regardless of age.

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PCN303 A SYSTEMATIC REVIEW (SR) OF THE GENETIC TESTING RATES OF DNA DAMAGE RESPONSE MUTATIONS (DDRM) AND GENETIC COUNSELING AMONG MEN WITH OR AT RISK OF PROSTATE CANCER (PC)

Value in Health ◽

10.1016/j.jval.2020.04.1766 ◽

2020 ◽

Vol 23 ◽

pp. S77

Author(s):

N. Armstrong ◽

S. Ryder ◽

J. Ross ◽

T. Buksnys ◽

C.A. Forbes ◽

...

Keyword(s):

Prostate Cancer ◽

Systematic Review ◽

At Risk ◽

Dna Damage ◽

Genetic Counseling ◽

Genetic Testing ◽

Dna Damage Response ◽

Damage Response

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Genetic services for Hereditary Cancer: a systematic review of Patient Reported Outcomes studies

European Journal of Public Health ◽

10.1093/eurpub/ckz186.380 ◽

2019 ◽

Vol 29 (Supplement_4) ◽

Author(s):

E Pitini ◽

E D’Andrea ◽

A Rosso ◽

A Massimi ◽

B Unim ◽

...

Keyword(s):

Systematic Review ◽

Genetic Counseling ◽

Genetic Testing ◽

Information And Communication Technologies ◽

Patient Reported Outcomes ◽

Disease Risk ◽

Depression Scale ◽

Genetic Services ◽

Genetic Profile ◽

Patient Reported

Abstract Background Genetic services for Hereditary Breast and Ovarian Cancer (HBOC) have become part of clinical and public health practice. Nevertheless, the evaluation of such services, including genetic testing and counseling, is challenging as they rarely affect health status measures (e.g. mortality and morbidity). A possible way is using Patient Reported Outcomes (PROs) i.e. subjective reports coming from patients, directly attributable to genetic services. We performed a systematic review to explore the use of PROs in HBOC genetic services. Methods We searched Pubmed, Scopus, and ISI Web of Knowledge for observational studies using PROs to assess standard genetic counseling (i.e. in person and individual) for HBOC. Results We identified ten surveys from various countries (USA n = 5; Europa n = 6), published between 2000 and 2018 and mainly conducted in Teaching hospitals and Cancer Research and Treatment Institutes (n = 9). The majority assessed pre-test counseling (n = 6) with diagnostic or predictive purpose. The most frequently measured outcomes were patient satisfaction (n = 9), adherence to recommended interventions (n = 3), information sharing with relatives (n = 3); disease risk perception (n = 2), and psychosocial distress (n = 2). Six studies adopted standardized PROs collection tools: the most common were the Genetic Counseling Satisfaction Scale and the Hospital Anxiety and Depression Scale. Questionnaires were mainly administered by post, soon after genetic counseling or up to seven years later. Overall, patients seem satisfied with genetic counseling. Nevertheless, more attention to the psycho-social aspects of genetic testing is needed. Conclusions PROs are very promising for the assessment of HBOC genetic services. Their routine use could provide important elements to improve the quality and the patient-centeredness of genetic services. Emerging information and communication technologies will help this process by making it easier collecting patient data. Key messages Precision medicine, where medical decisions are tailored to an individual’s characteristics, including the patient’s genetic profile, is becoming a paradigm for chronic diseases, particularly cancer. PROs are expected to be increasingly used as a measure of performance in order to drive the changes in how clinical genetic services, and healthcare in general, are organized, delivered and founded.

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