Literature DB >> 33994725

Genetic Counseling Clinic at AIIMS (New Delhi).

Dhritiman Maitra1, Payal Manek2, Neha Gupta1, Anurag Srivastava3.   

Abstract

The field of genetic counseling in India has enormously transformed over the past few years. Genetic counseling is a communication process which deals with the human problems associated with the occurrence or risk of occurrence of a genetic disorder in a family. Genetic counseling is not merely having a conversation based on genomic data. It addresses the "information needs" of a particular patient, and customizes a session according to each patient's individual circumstances, thereby aiding in decision-making. In 2012, AIIMS (New Delhi) became the first tertiary care center in North India to provide genetic counseling for cancer. Among 200 cases that were referred for genetic counseling to the AIIMS clinic at the Department of Surgical Disciplines, about 30% of patients chose to undergo testing. Five cases of BRCA1/2 mutation were found conforming to the hereditary breast and ovarian cancer syndrome. There was one case of TP53 mutation conforming to Li-Fraumeni syndrome. One case each of Xeroderma Pigmentosum (XP) and Cowden's syndrome was also detected. All these cases were offered risk-reducing measures and put under life-long surveillance as per protocol. Their family members were also offered genetic counseling and subsequent testing if they agreed. Cancer genetic counseling service was a new exercise, and hence, several challenges were faced. The clinical utility of genetic testing, coupled with counseling, should be established by trials. Documenting the achievements of counseling by surrogate parameters like "improved recruitment rate of patients for genetic tests" and "improved patient satisfaction levels" will go a long way in garnering the much needed institutional support. © Indian Association of Surgical Oncology 2020.

Entities:  

Keywords:  Familial Cancer; Genetic Counseling; Genetic testing; Hereditary cancer; Risk Reducing surgery

Year:  2020        PMID: 33994725      PMCID: PMC8119545          DOI: 10.1007/s13193-020-01054-1

Source DB:  PubMed          Journal:  Indian J Surg Oncol        ISSN: 0975-7651


  12 in total

1.  Clinically Significant Germline Mutations in Cancer-Causing Genes Identified Through Research Studies Should Be Offered to Research Participants by Genetic Counselors.

Authors:  Laura E Forrest; Mary-Anne Young
Journal:  J Clin Oncol       Date:  2016-01-19       Impact factor: 44.544

2.  National Estimates of Genetic Testing in Women With a History of Breast or Ovarian Cancer.

Authors:  Christopher P Childers; Kimberly K Childers; Melinda Maggard-Gibbons; James Macinko
Journal:  J Clin Oncol       Date:  2017-08-18       Impact factor: 44.544

3.  Panel Testing for Familial Breast Cancer: Calibrating the Tension Between Research and Clinical Care.

Authors:  Ella R Thompson; Simone M Rowley; Na Li; Simone McInerny; Lisa Devereux; Michelle W Wong-Brown; Alison H Trainer; Gillian Mitchell; Rodney J Scott; Paul A James; Ian G Campbell
Journal:  J Clin Oncol       Date:  2016-01-19       Impact factor: 44.544

4.  Increased Reach of Genetic Cancer Risk Assessment as a Tool for Precision Management of Hereditary Breast Cancer.

Authors:  Kathleen R Blazer; Thomas Slavin; Jeffrey N Weitzel
Journal:  JAMA Oncol       Date:  2016-06-01       Impact factor: 31.777

5.  Cancer Statistics, 2017.

Authors:  Rebecca L Siegel; Kimberly D Miller; Ahmedin Jemal
Journal:  CA Cancer J Clin       Date:  2017-01-05       Impact factor: 508.702

Review 6.  Genetics of breast cancer: a topic in evolution.

Authors:  S Shiovitz; L A Korde
Journal:  Ann Oncol       Date:  2015-01-20       Impact factor: 32.976

7.  Genetic Counselors' Experiences Regarding Communication of Reproductive Risks with Autosomal Recessive Conditions found on Cancer Panels.

Authors:  Sarah Mets; Rebecca Tryon; Patricia McCarthy Veach; Heather A Zierhut
Journal:  J Genet Couns       Date:  2015-10-10       Impact factor: 2.537

8.  Cost-effectiveness of Population-Based BRCA1, BRCA2, RAD51C, RAD51D, BRIP1, PALB2 Mutation Testing in Unselected General Population Women.

Authors:  Ranjit Manchanda; Shreeya Patel; Vladimir S Gordeev; Antonis C Antoniou; Shantel Smith; Andrew Lee; John L Hopper; Robert J MacInnis; Clare Turnbull; Susan J Ramus; Simon A Gayther; Paul D P Pharoah; Usha Menon; Ian Jacobs; Rosa Legood
Journal:  J Natl Cancer Inst       Date:  2018-07-01       Impact factor: 13.506

9.  Gaps in Incorporating Germline Genetic Testing Into Treatment Decision-Making for Early-Stage Breast Cancer.

Authors:  Allison W Kurian; Yun Li; Ann S Hamilton; Kevin C Ward; Sarah T Hawley; Monica Morrow; M Chandler McLeod; Reshma Jagsi; Steven J Katz
Journal:  J Clin Oncol       Date:  2017-04-12       Impact factor: 50.717

10.  False-positive results released by direct-to-consumer genetic tests highlight the importance of clinical confirmation testing for appropriate patient care.

Authors:  Stephany Tandy-Connor; Jenna Guiltinan; Kate Krempely; Holly LaDuca; Patrick Reineke; Stephanie Gutierrez; Phillip Gray; Brigette Tippin Davis
Journal:  Genet Med       Date:  2018-03-22       Impact factor: 8.822

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