Physician exposure to and attitudes toward advertisements for genetic tests for inherited cancer susceptibility

2005 ◽  
Vol 135A (1) ◽  
pp. 41-46 ◽  
Author(s):  
Susan Thomas Vadaparampil ◽  
Louise Wideroff ◽  
Lorayn Olson ◽  
K. Viswanath ◽  
Andrew N. Freedman
Keyword(s):  
Cancer Susceptibility ◽  
Genetic Tests ◽  
Inherited Cancer ◽  
Attitudes Toward Advertisements

scholarly journals Comparing models of delivery for cancer genetics services among patients receiving primary care who meet criteria for genetic evaluation in two healthcare systems: BRIDGE randomized controlled trial

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Kimberly A. Kaphingst ◽  
Wendy Kohlmann ◽  
Rachelle Lorenz Chambers ◽  
Melody S. Goodman ◽  
Richard Bradshaw ◽  
...  
Keyword(s):  
Primary Care ◽  
Genetic Counseling ◽  
Cancer Susceptibility ◽  
Cancer Genetics ◽  
Controlled Trial ◽  
Standard Of Care ◽  
Healthcare Systems ◽  
Genetic Services ◽  
Inherited Cancer ◽  
Services Delivery

Abstract Background Advances in genetics and sequencing technologies are enabling the identification of more individuals with inherited cancer susceptibility who could benefit from tailored screening and prevention recommendations. While cancer family history information is used in primary care settings to identify unaffected patients who could benefit from a cancer genetics evaluation, this information is underutilized. System-level population health management strategies are needed to assist health care systems in identifying patients who may benefit from genetic services. In addition, because of the limited number of trained genetics specialists and increasing patient volume, the development of innovative and sustainable approaches to delivering cancer genetic services is essential. Methods We are conducting a randomized controlled trial, entitled Broadening the Reach, Impact, and Delivery of Genetic Services (BRIDGE), to address these needs. The trial is comparing uptake of genetic counseling, uptake of genetic testing, and patient adherence to management recommendations for automated, patient-directed versus enhanced standard of care cancer genetics services delivery models. An algorithm-based system that utilizes structured cancer family history data available in the electronic health record (EHR) is used to identify unaffected patients who receive primary care at the study sites and meet current guidelines for cancer genetic testing. We are enrolling eligible patients at two healthcare systems (University of Utah Health and New York University Langone Health) through outreach to a randomly selected sample of 2780 eligible patients in the two sites, with 1:1 randomization to the genetic services delivery arms within sites. Study outcomes are assessed through genetics clinic records, EHR, and two follow-up questionnaires at 4 weeks and 12 months after last genetic counseling contactpre-test genetic counseling. Discussion BRIDGE is being conducted in two healthcare systems with different clinical structures and patient populations. Innovative aspects of the trial include a randomized comparison of a chatbot-based genetic services delivery model to standard of care, as well as identification of at-risk individuals through a sustainable EHR-based system. The findings from the BRIDGE trial will advance the state of the science in identification of unaffected patients with inherited cancer susceptibility and delivery of genetic services to those patients. Trial registration BRIDGE is registered as NCT03985852. The trial was registered on June 6, 2019 at clinicaltrials.gov.

scholarly journals A review of inherited cancer susceptibility syndromes

2020 ◽  
Vol 33 (12) ◽  
pp. 10-16
Author(s):  
Gina R. Brown ◽  
Madeline Simon ◽  
Chris Wentling ◽  
Danielle M. Spencer ◽  
Ashley N. Parker ◽  
...  
Keyword(s):  
Cancer Susceptibility ◽  
Inherited Cancer

scholarly journals A Case-Based Approach to Understanding Complex Genetic Information in an Evolving Landscape

2021 ◽  
pp. 1-11
Author(s):  
Courtney D. DiNardo ◽  
Larissa A. Korde ◽  
Matthew B. Yurgelun
Keyword(s):  
Genetic Testing ◽  
Genetic Information ◽  
Cancer Susceptibility ◽  
Susceptibility Gene ◽  
Somatic Mosaicism ◽  
Inherited Cancer ◽  
Clonal Hematopoiesis ◽  
Pathogenic Variants ◽  
Technological Advances ◽  
Case Based

The rapid integration of highly sensitive next-generation sequencing technologies into clinical oncology care has led to unparalleled progress, and yet these technological advances have also made genetic information considerably more complex. For instance, accurate interpretation of genetic testing for germline/inherited cancer predisposition syndromes and somatic/acquired pathogenic variants now requires a more nuanced understanding of the presence and incidence of clonal hematopoiesis and circulating tumor cells, with careful evaluation of pathogenic variants occurring at low variant allele frequency required. The interplay between somatic and germline pathogenic variants and awareness of distinct genotype-phenotype manifestations in various inherited cancer syndromes are now increasingly appreciated and can impact patient management. Through a case-based approach, we focus on three areas of particular relevance to the treating clinician oncologist: (1) understanding clonal hematopoiesis and somatic mosaicism, which can be detected on germline sequencing and lead to considerable confusion in clinical interpretation; (2) implications of the detection of a potentially germline pathogenic variant in a high-penetrance cancer susceptibility gene during routine tumor testing; and (3) a review of gene-specific risks and surveillance recommendations in Lynch syndrome. A discussion on the availability and difficulties often associated with direct-to-consumer genetic testing is also provided.

Abstract 15: Identifying patients with inherited cancer susceptibility through tumor profiling

2014 ◽  
Author(s):  
Lisa Madlensky ◽  
Richard Schwab ◽  
Elisa Arthur ◽  
Alice Coutinho ◽  
Barbara Parker ◽  
...  
Keyword(s):  
Cancer Susceptibility ◽  
Inherited Cancer ◽  
Tumor Profiling

scholarly journals CNVs affecting cancer predisposing genes (CPGs) detected as incidental findings in routine germline diagnostic chromosomal microarray (CMA) testing

2017 ◽  
Vol 55 (2) ◽  
pp. 89-96 ◽  
Author(s):  
Josie Innes ◽  
Lisa Reali ◽  
Jill Clayton-Smith ◽  
Georgina Hall ◽  
Derek HK Lim ◽  
...  
Keyword(s):  
Cancer Susceptibility ◽  
Risk Estimation ◽  
Suppressor Gene ◽  
Tumour Suppressor Gene ◽  
Chromosomal Microarray ◽  
Limited Information ◽  
Inherited Cancer ◽  
Predisposing Genes ◽  
Stage Analysis ◽  
Gains And Losses

BackgroundIdentification of CNVs through chromosomal microarray (CMA) testing is the first-line investigation in individuals with learning difficulties/congenital abnormalities. Although recognised that CMA testing may identify CNVs encompassing a cancer predisposition gene (CPG), limited information is available on the frequency and nature of such results.MethodsWe investigated CNV gains and losses affecting 39 CPGs in 3366 pilot index case individuals undergoing CMA testing, and then studied an extended cohort (n=10 454) for CNV losses at 105 CPGs and CNV gains at 9 proto-oncogenes implicated in inherited cancer susceptibility.ResultsIn the pilot cohort, 31/3366 (0.92%) individuals had a CNV involving one or more of 16/39 CPGs. 30/31 CNVs involved a tumour suppressor gene (TSG), and 1/30 a proto-oncogene (gain of MET). BMPR1A, TSC2 and TMEM127 were affected in multiple cases. In the second stage analysis, 49/10 454 (0.47%) individuals in the extended cohort had 50 CNVs involving 24/105 CPGs. 43/50 CNVs involved a TSG and 7/50 a proto-oncogene (4 gains, 3 deletions). The most frequently involved genes, FLCN (n=10) and SDHA (n=7), map to the Smith-Magenis and cri-du-chat regions, respectively.ConclusionIncidental identification of a CNV involving a CPG is not rare and poses challenges for future cancer risk estimation. Prospective data collection from CPG-CNV cohorts ascertained incidentally and through syndromic presentations is required to determine the risks posed by specific CNVs. In particular, ascertainment and investigation of adults with CPG-CNVs and adults with learning disability and cancer, could provide important information to guide clinical management and surveillance.

scholarly journals A Retrospective 5-Year Single Center Study Highlighting the Risk of Cancer Predisposition in Adolescents and Young Adults

Cancers ◽  
2021 ◽  
Vol 13 (12) ◽  
pp. 3033
Author(s):  
Frank Jordan ◽  
Simon Huber ◽  
Sebastian Sommer ◽  
Gerhard Schenkirsch ◽  
Michael C. Frühwald ◽  
...  
Keyword(s):  
Cancer Patients ◽  
Cancer Susceptibility ◽  
Endocrine System ◽  
Daily Practice ◽  
Cancer Predisposition ◽  
Multiple Primary Cancers ◽  
Nerve Sheath Tumor ◽  
Single Center ◽  
Inherited Cancer ◽  
Risk Of Cancer

The knowledge of inherited cancer susceptibility opens a new field of cancer medicine. We conducted a retrospective single-center cohort study. Data of AYA cancer patients registered between January 2014 and December 2018 were analyzed. The median age at cancer diagnosis of 704 patients (343 males, 361 females) was 32 years (range, 15–39 years), median follow-up was 181 days (range, 1–1975 days). Solid tumors were diagnosed in 575 (81.7%) patients, hematologic malignancies in 129 (18.3%) patients. Multiple primary cancers were reported in 36 (5.1%) patients. Malignancies that may be indicators of inherited cancer susceptibility were diagnosed in 2.6% of patients with cancers of the endocrine system, in 73% of cancers of the gastrointestinal system, in 88% of tumors of the central nervous system, in 92% of cancers of the urinary tract, and in 59% of head and neck tumors. In addition, all patients with breast cancer, sarcoma, and peripheral nerve sheath tumor were in need of genetic counselling. In sum, at least 181 of 704 (25.7%) AYA cancer patients presented with malignancies suspicious of harboring pathogenic germline variants. Evaluation of AYA cancer patients for hereditary cancer predisposition needs to be integrated into daily practice.

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