Genetic and Genomic Testing: Indications and Selection


This case-based course reviews use of germline and somatic testing in women with breast cancer. Regarding germline BRCA testing, indications for testing, selection of test type, and impact of results on the patient and family members are discussed. Regarding somatic (tumor) testing, indications for testing, available tests and interpretation of results are discussed.

Learning Objectives

After participating in this activity, learners will be better able to:

  • Discuss indications for germline genetic testing in patients with breast cancer
  • Assess the impact of a pathogenic germline variant on treatment planning for the patient, as well as implications for family members
  • Compare and contrast single-gene and multigene panel tests for germline testing
  • Evaluate the clinical utility and validity of a tumor genomic test result
  • Apply knowledge gained to utilize appropriate germline and somatic testing to improve patient care


  • Aditya Bardia, MD, MPH, MBBS
    Massachusetts General Hospital
    Boston, MA


Aditya Bardia, MD, MPH, MBBS: Consulting or Advisory Role – Novartis, Genentech, Pfizer, Spectrum Pharmaceuticals, bioTheranostics, Merck, Radius Pharma, Immunomedics, Sanofi, Puma Biotechnology, Immunomedics (Inst), Novartis (Inst),  Genentech/Roche (Inst), Pfizer (Inst), Radius Health (Inst), Innocrin Pharma (Inst); Research Funding – bioTheranostics

Planner/Reviewer Disclosures

Marie Wood, MD, FASCO: Consulting or Advisory Role – Heron (Inst), AstraZeneca (Inst)
Leslie Worona, FNP-BC: no relationships to disclose
Joanne Jeter, MD: Consulting or Advisory Role – Pfizer, Array Biopharma; Research Funding – Merck, Bristol Myers Squibb (Inst), Bristol-Myers Squibb; Travel, Accommodations, Expenses – Pfizer, Array BioPharma
Matthew Yurgelun, MD: Consulting or Advisory Role – Janssen; Research Funding – Myriad Genetics
Alexander Drilon, MD: Honoraria – Medscape, OncLive, PeerVoice, Physicians Education Resources, Tyra Biosences, Targeted Oncology, MORE Health, Research to Practice, Foundation Medicine, Peerview, AstraZeneca, Genentech/Roche, Bayer; Consulting or Advisory Role – Ignyta, Loxo, TP Therapeutics, AstraZeneca, Pfizer, Blueprint Medicines, Genentech/Roche, Takeda, Helsinn Therapeutics, BeiGene, Hengrui Therapeutics, Exelixis, Bayer; Other Relationship – Wolters Kluwer
Michael Berger, PhD: Consulting or Advisory Role – Roche; Research Funding – Grail, Illumina
Philippe Bedard, MD: Research Funding – Bristol Myers Squibb (Inst), Sanofi (Inst), AstraZeneca (Inst), Genentech/Roche (Inst), SERVIER (Inst), GlaxoSmithKline (Inst), Novartis (Inst), SignalChem (Inst), PTC Therapeutics (Inst), Nektar (Inst), Merck (Inst), Seattle Genetics (Inst), Mersana (Inst), Immunomedics (Inst)
Patrick J. Kiel, PharmD, BCPS, BCOP, FHOPA: Speakers’ Bureau – Takeda, Celgene, Genentech/Roche
Todd Pickard, MMSc, PA-C, FASCO: no relationships to disclose
Ann LaCasce, MD, MMSc: Consulting or Advisory Role – Forty Seven, Bristol-Myers Squibb, Seattle Genetics, Humanigen; Speakers’ Bureau – Research to Practice; Research Funding – Sanofi (Inst), Forty Seven (Inst), Celene (Inst), Seattle Genetics (Inst); Patents, Royalties, Other Intellectual Propery – Up to Date royalties

Commercial Support

ASCO and Conquer Cancer gratefully acknowledge the following companies for their support of the Genetic and Genomic Testing: Indications and Selection course: Genomic Health, Inc. and Illumina, Inc.

Disclaimer/Unlabeled Usage Statement

The information presented is that of the contributing authors and does not necessarily represent the views of the American Society of Clinical Oncology. Specific therapies discussed may not be approved and/or specified for use as indicated. Therefore, before prescribing any medication, please review the complete prescribing information including indications, contraindications, warnings, precautions and adverse effects.

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