How and when to refer patients for oncogenetic counseling in the era of PARP inhibitors
Open Access
- 1 January 2020
- journal article
- review article
- Published by SAGE Publications in Therapeutic Advances in Medical Oncology
Abstract
Poly(ADP-ribose)polymerase (PARP) inhibitors are targeted therapy for cancers with homologous repair deficiency (HRD). They were first approved for ovarian cancer and have changed current treatment strategies. They have also demonstrated efficacy in HER2-negative metastatic breast cancer and advanced prostate cancer with BRCA1/2 or ATM mutations. Patients with somatic and/or germline BRCA1/2 mutations benefit more from these treatments than other patients. Nowadays, the diagnosis of HRD is largely based on germline genetic testing, which is performed after an in-person genetic counseling session, even for patients without any family history of cancer. However, with the increasing number of PARP inhibitor indications across different tumor types, rapid access to oncogenetic consultations will become a challenge. To meet this demand, tumor genomic testing could be offered at initial diagnosis. Telephone counseling and other referral systems could replace in-person consultations for certain subgroups of patients deemed to have a low risk of harboring a germline mutation. This article reviews international guidelines for genetic counseling testing. We herein propose new care pathways for breast, prostate and ovarian cancers, including tumor genomic testing at initial diagnosis in order to help triage genetic counseling referrals.This publication has 33 references indexed in Scilit:
- Randomized Noninferiority Trial of Telephone Versus In-Person Genetic Counseling for Hereditary Breast and Ovarian CancerJournal of Clinical Oncology, 2014
- Germline and Somatic Mutations in Homologous Recombination Genes Predict Platinum Response and Survival in Ovarian, Fallopian Tube, and Peritoneal CarcinomasClinical Cancer Research, 2014
- Newly diagnosed and relapsed epithelial ovarian carcinoma: ESMO Clinical Practice Guidelines for diagnosis, treatment and follow-upAnnals of Oncology, 2013
- The poly(ADP-ribose) polymerase inhibitor niraparib (MK4827) in BRCA mutation carriers and patients with sporadic cancer: a phase 1 dose-escalation trialThe Lancet Oncology, 2013
- The use of telephone in genetic counseling versus in-person counseling: a randomized study on counselees’ outcomeFamilial Cancer, 2012
- Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencingProceedings of the National Academy of Sciences of the United States of America, 2011
- Integrated genomic analyses of ovarian carcinomaNature, 2011
- Somatic Mutations in BRCA1 and BRCA2 Could Expand the Number of Patients That Benefit From Poly (ADP Ribose) Polymerase Inhibitors in Ovarian CancerJournal of Clinical Oncology, 2010
- The BOADICEA model of genetic susceptibility to breast and ovarian cancerBritish Journal of Cancer, 2004
- A new scoring system for the chances of identifying a BRCA1/2 mutation outperforms existing models including BRCAPROJournal of Medical Genetics, 2004