Prospective Registry of Multiplex Testing (PROMPT): Feasible and sustainable.

Symecko, Heather; Brower, Jamie; Drogan, Christine; Harstad, Tricia; Salo‐Mullen, Erin; Pradhan, Nisha; Hamilton, Jada G.; Balmañà, Judith; Walsh, Michael F.; Couch, Fergus J.; Garber, Judy E.; Offit, Kenneth; Domchek, Susan M.

doi:10.1200/jco.2018.36.15_suppl.1543

Cited by 3 publications

(3 citation statements)

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“…PROMPT is an internet‐based, patient‐directed ascertainment study for those who completed multiplex panel testing for cancer susceptibility, and is a partnership between Memorial Sloan Kettering Cancer Center, University of Pennsylvania, Mayo Clinic, and Dana Farber Cancer Institute. The overall objective of this registry is to ascertain families who underwent multigene panel testing to allow penetrance calculations for mutations in less characterized genes (Balmaña et al, 2016; Brower et al, 2019; Symecko et al, 2018) as well as to promote other research among these variant carriers. Since September 2014, healthcare providers and commercial laboratories have provided PROMPT information to eligible participants and ordering providers with test results.…”

Section: Methodsmentioning

confidence: 99%

Summary of the experiences, knowledge, medical management, and family communication of monoallelic MUTYH carriers

McKenna

Sanchez

Powers

et al. 2022

Journal of Genetic Counseling

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Germline genetic testing for inherited cancer risk is increasingly being performed with multigene panel testing with MUTYH often included on colorectal cancer-and polyposis-focused panels, as well as on broader pan-cancer panels. With up to 1%-2% of the general population being monoallelic MUTYH carriers, pathogenic/likely pathogenic (P/LP) variants in MUTYH are one of the most common findings on multigene cancer panels. However, little is known about patient experience and understanding of monoallelic MUTYH P/LP variants, nor whether such findings influence medical management recommendations and familial communication, which this study aims to better understand. Monoallelic P/LP MUTYH carriers were recruited from the Prospective Registry of Multiplex Testing (PROMPT) and completed a cross-sectional self-report survey on sociodemographic characteristics, medical and family history, experiences with MUTYH genetic testing, genetics and MUTYH knowledge, perceived cancer risk, and familial communication. Of 115 eligible PROMPT participants, 49 (43%) completed the survey who were primarily female (94%), white (96%), had a history of cancer (61%), and a median age of 51.4 years. Most participants (61%) reported satisfaction with how their healthcare provider managed their genetic test result and care, and 65% of survey participants reported their provider recommended colonoscopy based on their genetic test results. Participants' responses also reflected variable levels of knowledge regarding cancer risks and screening recommendations for MUTYH carriers. The majority (98%) of participants shared their genetic test results with at least some of their relatives; however, only 13% of eligible relatives reportedly underwent cascade testing. Taken together, this study provides needed insight into the overall experiences of monoallelic MUTYH carriers and highlights numerous areas for improvement in clinician education, communication, and management of these individuals.

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Section: Methodsmentioning

confidence: 99%

Summary of the experiences, knowledge, medical management, and family communication of monoallelic MUTYH carriers

McKenna

Sanchez

Powers

et al. 2022

Journal of Genetic Counseling

Self Cite

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“…One example is the Prospective Registry of MultiPlex Testing, an online registry for individuals who completed multigene panel testing for cancer susceptibility. This registry aims to enroll and evaluate families to allow penetrance calculations for mutations in less‐well‐characterized cancer‐susceptibility genes, resolve the pathogenicity of VUS results, acquire DNA samples and pathology reports from participants and their families to determine how variants segregate within families, and provide updates and resources to participants via webinars, newsletters, and an informational website . It is possible that engagement in these kinds of research efforts may offer psychosocial benefits for patients following multigene panel testing.…”

Section: Future Directions For Researchmentioning

confidence: 99%

“…This registry aims to enroll and evaluate families to allow penetrance calculations for mutations in less-well-characterized cancer-susceptibility genes, resolve the pathogenicity of VUS results, acquire DNA samples and pathology reports from participants and their families to determine how variants segregate within families, and provide updates and resources to participants via webinars, newsletters, and an informational website. 33 It is possible that engagement in these kinds of research efforts may offer psychosocial benefits for patients following multigene panel testing. Although personal and social benefits of participation are unexplored in the context of multigene panel testing, individuals engaging in genetic research activities anticipate and describe various benefits of these kinds.…”

Section: Future Directions For Researchmentioning

confidence: 99%

Psychosocial Effects of Multigene Panel Testing in the Context of Cancer Genomics

Hamilton¹

2019

Hastings Center Report

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In recent years, with both the development of next‐generation sequencing approaches and the Supreme Court decision invalidating gene patents, declining costs have contributed to the emergence of a new model of hereditary cancer genetic testing. Multigene panel testing (or multiplex testing) involves using next‐generation sequencing technology to determine the sequence of multiple cancer‐susceptibility genes. In addition to high‐penetrance cancer‐susceptibility genes, multigene panels frequently include genes that are less robustly associated with cancer predisposition. Scientific understanding about associations between many specific moderate‐penetrance gene variants and cancer risks is incomplete. The emergence of multigene panel tests has created unique challenges that may have meaningful psychosocial implications. Contrasted with the serial testing process, wherein patients consider the personal and clinical implications of each evaluated gene, with multigene panel testing, patients provide broad consent to whichever genes are included in a particular panel and then, after the test, receive in‐depth genetic counseling to clarify the distinct implications of their specific results. Consequently, patients undergoing multigene panel testing may have a less nuanced understanding of the test and its implications, and they may have fewer opportunities to self‐select against the receipt of particular types of genetic‐risk information. Evidence is conflicting regarding the emotional effects of this testing.

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Germline Genetic Testing for Breast Cancer Risk: The Past, Present, and Future

Yadav

Couch

2019

American Society of Clinical Oncology Educational Book

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The field of germline genetic testing for breast cancer (BC) risk has evolved substantially in the last decade. The introduction of multigene panel testing (MGPT) led to an urgent need to understand the cancer risk associated with several genes included in the panels. Although the research on understanding the cancer risk associated with mutations in several genes continues, there is also a need to understand the modifying effects of race and ethnicity, family history, and BC pathology on the prevalence of germline mutations and associated BC risk. Furthermore, polygenic risk scores (PRSs) to predict BC risk in patients with or without germline mutations in cancer-predisposition genes are now available for clinical use, although data on the clinical utility of PRSs are lacking. In patients with advanced BC associated with BRCA1/2 mutation, olaparib and talazoparib are now approved for treatment. In addition, molecular profiling studies are being used to clarify the BC tumor biology in mutation carriers to identify potential therapeutic options. In this article, we discuss these advances in the field of germline genetic testing and highlight current limitations and implications for clinical care.

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Prospective Registry of Multiplex Testing (PROMPT): Feasible and sustainable.

Cited by 3 publications

References 0 publications

Summary of the experiences, knowledge, medical management, and family communication of monoallelic MUTYH carriers

Summary of the experiences, knowledge, medical management, and family communication of monoallelic MUTYH carriers

Psychosocial Effects of Multigene Panel Testing in the Context of Cancer Genomics

Germline Genetic Testing for Breast Cancer Risk: The Past, Present, and Future

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