cascade testing
Recently Published Documents


TOTAL DOCUMENTS

126
(FIVE YEARS 56)

H-INDEX

16
(FIVE YEARS 3)

Author(s):  
Emma R. Woodward ◽  
Kate Green ◽  
George J. Burghel ◽  
Michael Bulman ◽  
Tara Clancy ◽  
...  

AbstractIt is 30 years since the first diagnostic cancer predisposition gene (CPG) test in the Manchester Centre for Genomic Medicine (MCGM), providing opportunities for cancer prevention, early detection and targeted treatments in index cases and at-risk family members. Here, we present time trends (1990–2020) of identification of index cases with a germline CPG variant and numbers of subsequent cascade tests, for 15 high-risk breast and gastro-intestinal tract cancer-associated CPGs: BRCA1, BRCA2, PALB2, PTEN, TP53, APC, BMPR1a, CDH1, MLH1, MSH2, MSH6, PMS2, SMAD4, STK11 and MUTYH. We recorded 2082 positive index case diagnostic screening tests, generating 3216 positive and 3140 negative family cascade (non-index) tests. This is equivalent to an average of 3.05 subsequent cascade tests per positive diagnostic index test, with 1.54 positive and 1.51 negative non-index tests per family. The CPGs with the highest numbers of non-index positive cases identified on cascade testing were BRCA1/2 (n = 1999) and the mismatch repair CPGs associated with Lynch Syndrome (n = 731). These data are important for service provision and health economic assessment of CPG diagnostic testing, in terms of cancer prevention and early detection strategies, and identifying those likely to benefit from targeted treatment strategies.


Author(s):  
Michael P. Douglas ◽  
Grace A. Lin ◽  
Julia R. Trosman ◽  
Kathryn A. Phillips

Abstract Hereditary breast and ovarian cancers (HBOCs) are common among the Latinx population, and risk testing is recommended using multi-gene hereditary cancer panels (HCPs). However, little is known about how payer reimbursement and out-of-pocket expenses impact provider ordering of HCP in the Latinx population. Our objective is to describe key challenges and possible solutions for HCP testing in the Latinx population. As part of a larger study, we conducted semi-structured interviews with key provider informants (genetic counselors, oncologist, nurse practitioner) from safety-net institutions in the San Francisco Bay Area. We used a deductive thematic analysis approach to summarize themes around challenges and possible solutions to facilitating HCP testing in Latinx patients. We found few financial barriers for HCP testing for the Latinx population due to laboratory patient assistance programs that cover testing at low or no cost to patients. However, we found potential challenges related to the sustainability of low-cost testing and out-of-pocket expenses for patients, access to cascade testing for family members, and pathogenic variants specific to Latinx. Providers questioned whether current laboratory payment programs that decrease barriers to testing are sustainable and suggested solutions for accessing cascade testing and ensuring variants specific to the Latinx population were included in testing. The use of laboratories with payment assistance programs reduces barriers to HCP testing among the US population; however, other barriers are present that may impact testing use in the Latinx population and must be addressed to ensure equitable access to HCP testing for this population.


Author(s):  
Anindita Chakraborty ◽  
Jing Pang ◽  
Dick C. Chan ◽  
Katrina L. Ellis ◽  
Amanda J. Hooper ◽  
...  

2021 ◽  
Vol 258-259 ◽  
pp. 49-50
Author(s):  
Paraskevi Apostolou ◽  
Florentia Fostira ◽  
George Fountzilas ◽  
Evangelia Razis ◽  
Drakoulis Yannoukakos ◽  
...  
Keyword(s):  

2021 ◽  
Vol 19 (1) ◽  
Author(s):  
Suzanne C. O’Neill ◽  
Jada G. Hamilton ◽  
Claire C. Conley ◽  
Beth N. Peshkin ◽  
Rosalba Sacca ◽  
...  

AbstractConsensus and evidence suggest that cascade testing is critical to achieve the promise of cancer genetic testing. However, barriers to cascade testing include effective family communication of genetic risk information and family members’ ability to cope with genetic risk. These barriers are further complicated by the developmental needs of unaffected family members during critical windows for family communication and adaptation. Peer support could address these barriers. We provide two illustrative examples of ongoing BRCA1/2-related clinical trials that apply a peer support model to improve family communication and functioning. Peer support can augment currently available genetic services to facilitate adjustment to and effective use of cancer genetic risk information. Importantly, this scalable approach can address the presence of cancer risk within families across multiple developmental stages. This applies a family-centered perspective that accommodates all potentially at-risk relatives. This peer support model can be further applied to emerging topics in clinical genetics to expand reach and impact.


2021 ◽  
pp. jmedgenet-2021-108054
Author(s):  
Yifan Wang ◽  
Bryn Golesworthy ◽  
Adeline Cuggia ◽  
Celine Domecq ◽  
Prosanto Chaudhury ◽  
...  

BackgroundTraditional medical genetics models are unable to meet the growing demand for germline genetic testing (GT) in patients with exocrine pancreatic cancer (PC). This study investigates the impact of an ambulatory oncology clinic-based GT model.MethodsFrom 2012 to 2021, patients with PC were prospectively enrolled and considered for GT. Two chronological cohorts were compared: (1) the preuniversal genetic testing (pre-UGT) cohort, which received GT based on clinical criteria or family history; and (2) the post-UGT cohort, where an 86-gene panel was offered to all patients with PC.ResultsOf 847 eligible patients, 735 (86.8%) were enrolled (pre-UGT, n=579; post-UGT, n=156). A higher proportion of the post-UGT cohort received prospective GT (97.4% vs 58.5%, p<0.001). The rate of pathogenic germline alterations (PGA) across both cohorts was 9.9%, with 8.0% of PGAs in PC susceptibility genes. The post-UGT cohort had a higher prevalence of overall PGAs (17.2% vs 6.6%, p<0.001) and PGAs in PC susceptibility genes (11.9% vs 6.3%, p<0.001). The median turnaround time from enrolment to GT report was shorter in the post-UGT cohort (13 days vs 42 days, p<0.001). Probands with a PGA disclosed their GT results to 84% of their first-degree relatives (FDRs). However, only 31% of informed FDRs underwent GT, and the number of new cases per index case was 0.52.ConclusionA point-of-care GT model is feasible and expedites access to GT for patients with PC. Strategies to increase the uptake of cascade testing are needed to maximise the clinical impact of an oncology clinic-based GT model.


2021 ◽  
Vol 32 ◽  
pp. S1248
Author(s):  
D. Aguilar ◽  
Y. Chavarri Guerra ◽  
F. Mesa-Chavez ◽  
B.F. Vaca-Cartagena ◽  
A. Becerril-Gaitan ◽  
...  

Sign in / Sign up

Export Citation Format

Share Document