Genetics & Precision Medicine Cancer Care

Size: px
Start display at page:

Download "Genetics & Precision Medicine Cancer Care"

Transcription

1 Genetics & Precision Medicine Cancer Care Johnathan M. Lancaster, MD PhD Chief Medical Officer Myriad Genetics Copyright 2015 Myriad Genetics, Inc., all rights reserved.

2

3 Precision Medicine Right Patient Right Treatment Right Time "an emerging approach for disease treatment and prevention that takes into account individual variability in genes, environment, and lifestyle for each person." National Institutes of Health (NIH)

4 Precision Medicine Right Patient Right Management Right Time "an emerging approach for disease treatment and prevention that takes into account individual variability in genes, environment, and lifestyle for each person." Precision Healthcare National Institutes of Health (NIH)

5 Our Genetically-informed Precision Healthcare Future

6 A FUNDAMENTAL QUESTION

7 Pre-nuptial compatibility testing

8 Genetically-informed Precision Healthcare Pre-conception genotyping, risk assessment Pre-implantation or in-utero repair of genetic abnormalities Fetal whole genome sequence from maternal blood Birth: Disease-risk (including malignancy) quantification and long-term wellness, prevention, early-detection plan establishment Lifetime plan for dietary, behavioral, preventative and therapeutic optimization Vocational/educational path based upon genetically-determined, predicted skillsets and strengths Medication efficacy and toxicity Criminality genes dedicated education, interventions

9 CRISPR: Clustered Regularly Interspaced Short Palindromic Repeats Can we fix it?

10 The Oncologic Holy Grail Whole genome sequence of single cancer cell or nucleotides captured from circulation Treatment designed around cancers genotype and modified in real-time based on biology of circulating cancer cells

11 Re-thinking Clinical Research in a Precision Medicine World

12 Panel Testing Polygenic Risk PARP inhibitors

13 The Journey Solomon, Lori, Genetic Test Registry Finds Growth of Oncology, NGS-Based Tests Diagnostic Testing and Emerging Technologies, 6/27/16.

14 History 1866: Mendel s Peas: Mendelian inheritance 1953: Watson & Crick: Structure of DNA 1972: First sequence of a gene 1982: recombinant human insulin 1989: Cystic Fibrosis gene identified 1994: BRCA1 & BRCA2 identified 1997: Dolly the sheep cloned 2003: HGP-READ completed 2016: HGP-WRITE Announced

15 The birth of hereditary cancer genetics Solomon, Lori, Genetic Test Registry Finds Growth of Oncology, NGS-Based Tests Diagnostic Testing and Emerging Technologies, 6/27/16.

16

17

18 But there s more to the story Panels Exomes Genomes And beyond...

19 The Power of Next-Gen Sequencing (NGS) Fast ( day versus decade ) Accurate Efficient Cost-effective The Rise of Gene Panels Disease-specific Syndrome-specific High-penetrance Pan-cancer

20 A 28-Gene Pan-Cancer Genetic Panel

21

22

23

24 A Prospective Study of Hereditary Cancer Genetic Testing Cohort Prospective cohort - multiplex cancer gene testing, opened Aug. 14 Fully accrued trial, n=2,000 ethnically diverse Opened in 3 cancer genetics clinics: LA County, USC and Stanford Eligibility: no prior testing, age 18+, >2.5% mutation probability by risk models Genetic Testing The multiplex testing gene panel included: BRCA1, BRCA2, ATM, CHEK2, PALB2, NBN, BARD1, PTEN, BRIP1, RAD51C, RAD51D, MLH1, MSH2, EPCAM, MSH6, PMS2, APC, MUTYH, POLD1, POLE, GREM1, BMPR1A, SMAD4, TP53, STK11, CDH1, CDKN2A and CDK4. All genes were analyzed during the full time period except POLD1, POLE, GREM1, added in July 2016.

25 Safety Assessment Goal: Evaluate potential harms of multiplex testing to assess safety of their use (e.g. unwarranted surgeries, adverse psychological effects) Methods: Patients completed surveys on testing experiences at entry, then 3, 6, 12 months thereafter. The Multidimensional Impact of Cancer Risk Assessment (MICRA) scale was used to measure distress, uncertainty and positive experiences. MICRA Measurements Patient Survey Results: Perception of Genetic Testing Conclusions: Self-reported preventative surgery rates were low (mastectomy 9.2%, hysterectomy 1.6%, oophorectomy 1.8%), with no difference between VUS and mutation negative patients (p=0.207). Patients with a VUS had no more distress, regret, or uncertainly than mutation negative patients. Most patients wanted to know all results, even those that doctors do not fully understand.

26 Diagnostic Yield Method: Differential diagnosis were generated after expert clinical genetics assessment, formulating up to a 8 inherited cancer syndromes ranked by estimated likelihood. Differences between the differential diagnoses and genetic testing results were evaluated to determine the added diagnostic yield of multiplex panel testing. Conclusions: Multiplex testing increased genetic testing yield substantially: 34% of PV were in unsuspected genes. The identification of off-target mutations broadens our understanding of cancer risk and genotypephenotype correlations.

27 Risk-model performance Goal: Evaluate performance of <2.5%, <5% or >5% carrier probability threshold using risk prediction models Method: Patients with PV BRCA1 and BRCA2 were evaluated to see if met NCCN guidelines for HBOC and BRCApro was used for carrier prediction. Patients with a PV in one of the MMR genes were evaluated to see if met NCCN guidelines for LS and MMRpro and PREMM 1,2,5 were used for carrier prediction Conclusions: More than 50% of BRCA1, BRCA2, and MMR carriers had a carrier probability less than 5%, the consensus guideline threshold for genetic testing. 4% of individuals with a BRCA1 or BRCA2 PV did not meet NCCN criteria for HBOC and 13% of MMR PV carriers did not meet NCCN guidelines for LS. Using < 5% (2.5%) will identify more clinically meaningful mutations through multiplex testing in diverse populations. BRCApro

28 Adherence to Screening Recommendations Promoting Colorectal Cancer Screening after Multiplex Genetic Testing and Genetic Counseling Idos et al, ASCO 2018 Multiplex testing and genetic counseling prompted patients with a PV in a high risk CRC gene to appropriate screening colonoscopy adoption/adherence No significant difference in c-scope screening was seen in those with a VUS or negative result Likelihood of Undergoing Breast MRI after Multiplex Genetic Panel Testing Promoting Breast Cancer Screening after Multiplex Genetic Testing and Genetic Counseling Idos et al, ASCO 2018 Multiplex testing and genetic counseling prompted patients with a PV in BRCA1 or BRCA2 or a moderate risk breast cancer gene (CHEK2, ATM) were 3 times more likely to have an MRI than those who test negative Patients with a PV in other high risk breast cancer genes (PALB2, TP53) were 3 times more likely to undergo MRI vs those who tested negative but results were not statistically significant No significant difference in MRI observed in those with a VUS vs negative result

29 Summary A Prospective Study of Hereditary Cancer Genetic Testing (n=2,000) Largest prospective HC genetic testing study to date Panel testing: Safe Identifies more mutations Pheno-Geno mismatch Models/guidelines miss patients with mutations Changes patient behavior positively No evidence of inappropriate down-stream medical utilization

30 Polygenic Risk

31 Delineating Familial Breast Cancer Risk Couch, FJ. Science, Vol 343, 2014

32 Single nucleotide polymorphisms (SNPs) 1/300 nucleotides ~10 million/genome Specific combinations of SNPs can impact gene function Disease risk (cancer, CVS, neuro) Metabolism of alcohol or drugs Normal variation: hair, eye color Forensics Ethnicity Functions of other genes

33 Single nucleotide polymorphisms (SNPs) Breast cancer risk SNPs High prevalence Low penetrance

34 Unaffected FHx Breast cancer Neg for BRCA gene mutation

35 Copyright 2015 Myriad Genetics, Inc., all rights reserved. PARP inhibitors & Companion Diagnostics

36 Breast Cancer Trials OlympiAD Phase III randomized open-label evaluating Olaparib in mbreast or TNBC Germline B1/2 per CDx Endpoint: PFS as assessed by independent central review Copyright 2015 Myriad Genetics, Inc., all rights reserved.

37 Ovarian Cancer Trials QUADRA NCT Phase II open label, ovarian cancer 3 prior chemo regimens All comers niraparib maintenance n=463 Primary PFS Copyright 2015 Myriad Genetics, Inc., all rights reserved.

38 Ovarian Cancer Trials SOLO1 NCT Phase III double blind RCT, CR or PR after one course of platinum chemo Germline or somatic BRCA1/2 mutations Olaparib or placebo maintenance assigned in 2:1 (n=391) Primary endpoint PFS Risk of disease progression was 70% lower with olaparib; PFS at 36 mos 60% vs 27%, HR=0.30 [95%CI: 0.23 to 0.42; p<0.001] Copyright 2015 Myriad Genetics, Inc., all rights reserved.

39 Ovarian Cancer Trials SOLO1 NCT Phase III double blind RCT, CR or PR after one course of platinum chemo Germline or somatic BRCA1/2 mutations Olaparib or placebo maintenance assigned in 2:1 (n=391) Primary endpoint PFS Copyright 2015 Myriad Genetics, Inc., all rights reserved.

40

41 Hold the celebrations Inherited mutations are thought to play a role in about 5 to 10 percent of all cancers. National Cancer Institute It is estimated that only 30% of living breast cancer patients with a BRCA mutation, and 10 percent of asymptomatic BRCA carriers have been identified in the U.S.. Drohan, et al. Annals of Surg Onc, 2012 Nearly three-quarters of a million people in the United States have Lynch syndrome, yet only 5% know they have it. Douglas R. Lowry, MD Acting Director, National Cancer Institute The Moonshot Blue Ribbon Panel: Moving Toward a Final Report

42

43

44 Patients appropriate for hereditary cancer genetic testing 100% ~37% of patients with breast cancer meet criteria for hereditary cancer testing 1 1 Eisenbraun, et al. Community Oncology Kerber, et al. Familial Cancer NCCN Guidelines, % 100% of patients with met breast cancer are appropriate for testing 3 ~25% of patients with CRC meet criteria for hereditary cancer testing 2 100% 100% of patients with ovarian cancer are appropriate for testing 3 100% of patients with met prostate cancer are appropriate for testing 3 100% 100% of patients with pancreatic cancer are appropriate for testing 3

45 Barriers to Access to Genetic Care Relevance Education/In formation Family Concerns Care Availability Emotional Concerns Discrimination Concerns Cost And more Vogel, et al., Hereditary cancer in Clinical Practice, 16:13; 2018

46 Solutions

47 Solutions Office SOP Protocol DTC Education Post-test counseling APPs HCT as Quality Metric Telemedicine Train more GCs GC Triage Protocol Genetic specialist RNs Test at Home Clinical pathways Social Media Mobile App screen/educa te

48

49

WHAT IS A GENE? CHROMOSOME DNA PROTEIN. A gene is made up of DNA. It carries instructions to make proteins.

WHAT IS A GENE? CHROMOSOME DNA PROTEIN. A gene is made up of DNA. It carries instructions to make proteins. WHAT IS A GENE? CHROMOSOME E GEN DNA A gene is made up of DNA. It carries instructions to make proteins. The proteins have specific jobs that help your body work normally. PROTEIN 1 WHAT HAPPENS WHEN THERE

More information

WHAT IS A GENE? CHROMOSOME DNA PROTEIN. A gene is made up of DNA. It carries instructions to make proteins.

WHAT IS A GENE? CHROMOSOME DNA PROTEIN. A gene is made up of DNA. It carries instructions to make proteins. WHAT IS A GENE? CHROMOSOME GENE DNA A gene is made up of DNA. It carries instructions to make proteins. The proteins have specific jobs that help your body work normally. PROTEIN 1 WHAT HAPPENS WHEN THERE

More information

Germline Testing for Hereditary Cancer with Multigene Panel

Germline Testing for Hereditary Cancer with Multigene Panel Germline Testing for Hereditary Cancer with Multigene Panel Po-Han Lin, MD Department of Medical Genetics National Taiwan University Hospital 2017-04-20 Disclosure No relevant financial relationships with

More information

Why Test for Hereditary Cancer in Preventive Care?

Why Test for Hereditary Cancer in Preventive Care? Why Test for Hereditary Cancer in Preventive Care? Millions of people are sidelined by cancer. Wouldn't it be worth it for your patients to know their risk? background HEREDITARY (5-10%) More than 1 in

More information

The Next Generation of Hereditary Cancer Testing

The Next Generation of Hereditary Cancer Testing The Next Generation of Hereditary Cancer Testing Why Genetic Testing? Cancers can appear to run in families. Often this is due to shared environmental or lifestyle patterns, such as tobacco use. However,

More information

patient guide CancerNext genetic testing for hereditary cancer Because knowing your risk can mean early detection and prevention

patient guide CancerNext genetic testing for hereditary cancer Because knowing your risk can mean early detection and prevention patient guide CancerNext genetic testing for hereditary cancer Because knowing your risk can mean early detection and prevention Know the Basics Cancer occurs in about 1 in 3 adults in their lifetime types

More information

GYNplus: A Genetic Test for Hereditary Ovarian and/or Uterine Cancer

GYNplus: A Genetic Test for Hereditary Ovarian and/or Uterine Cancer GYNplus: A Genetic Test for Hereditary Ovarian and/or Uterine Cancer Causes of Hereditary Ovarian and Uterine Cancer uterine cancer ovarian cancer Sporadic 75-90% Sporadic 70-80% Hereditary, 5% Lynch syndrome

More information

A guide to genetic testing for hereditary cancers

A guide to genetic testing for hereditary cancers Cancer Testing Solutions A guide to genetic testing for hereditary cancers The benefit of knowing TM Hereditary cancer genetic testing can play a critical role in managing health Cancer touches millions

More information

Myriad Financial Assistance Program (MFAP)

Myriad Financial Assistance Program (MFAP) Myriad Financial Assistance Program (MFAP) MEDICAL CRITERIA Hereditary Cancer Products The Myriad Financial Assistance Program offers aid to patients who meet specific financial and medical requirements.

More information

Learn your genetic risk for the most common hereditary cancers.

Learn your genetic risk for the most common hereditary cancers. Learn your genetic risk for the most common hereditary cancers. color.com Color analyzes 30 genes including BRCA1 and BRCA2 to help women and men understand their risk for the most common hereditary cancers,

More information

The benefit of. knowing. Genetic testing for hereditary cancer. A patient support guide

The benefit of. knowing. Genetic testing for hereditary cancer. A patient support guide The benefit of knowing Genetic testing for hereditary cancer A patient support guide Does cancer run in your family? Cancer is more common in some families. Sometimes cancer is caused by a change in a

More information

The Role of genetic Testing for Inherited Prostate Cancer Risk

The Role of genetic Testing for Inherited Prostate Cancer Risk FOIU July 2018 The Role of genetic Testing for Inherited Prostate Cancer Risk Leonard G. Gomella, MD Chairman, Department of Urology Sidney Kimmel Cancer Center Thomas Jefferson University Philadelphia,

More information

GYNplus. genetic testing for hereditary ovarian and/or uterine cancer

GYNplus. genetic testing for hereditary ovarian and/or uterine cancer GYNplus genetic testing for hereditary ovarian and/or uterine cancer What Are the Causes of Hereditary Ovarian and Uterine Cancer? uterine cancer ovarian cancer sporadic 70-80% hereditary 5% Lynch syndrome

More information

A Patient s Guide to Hereditary Cancer. Is Hereditary Cancer Testing Right for You?

A Patient s Guide to Hereditary Cancer. Is Hereditary Cancer Testing Right for You? A Patient s Guide to Hereditary Cancer Is Hereditary Cancer Testing Right for You? What is Hereditary Cancer? Most cancers occur in people who do not have a strong family history of that cancer. This is

More information

Assessment and Management of Genetic Predisposition to Breast Cancer. Dr Munaza Ahmed Consultant Clinical Geneticist 2/7/18

Assessment and Management of Genetic Predisposition to Breast Cancer. Dr Munaza Ahmed Consultant Clinical Geneticist 2/7/18 Assessment and Management of Genetic Predisposition to Breast Cancer Dr Munaza Ahmed Consultant Clinical Geneticist 2/7/18 Overview The role of the Cancer Genetics team NICE guidelines for Familial Breast

More information

Germline Multigene Panel Testing in Oncology: Genetic Counseling Perspective

Germline Multigene Panel Testing in Oncology: Genetic Counseling Perspective Germline Multigene Panel Testing in Oncology: Genetic Counseling Perspective Sarah L. Campian, MS CGC Certified Genetic Counselor Nancy & James Grosfeld Cancer Genetics Center Objectives Identify patients/families

More information

Family Assessment. Objectives. Comprehensive Family History Important Inexpensive Underutilized genetic tool

Family Assessment. Objectives. Comprehensive Family History Important Inexpensive Underutilized genetic tool Besides the BRCA genes, what else to consider in hereditary breast and ovarian cancer? Laurie M. Connors DNP, APNG, FNP-BC, AGN-BC Objectives Evaluate personal & family history to assess risk for hereditary

More information

patient guide CancerNext-Expanded genetic testing for hereditary cancer Because knowing your risk can mean early detection and prevention

patient guide CancerNext-Expanded genetic testing for hereditary cancer Because knowing your risk can mean early detection and prevention patient guide CancerNext-Expanded genetic testing for hereditary cancer Because knowing your risk can mean early detection and prevention Know the Basics Cancer occurs in about 1 in 3 adults in their lifetime

More information

BRCAplus. genetic testing for hereditary breast cancer

BRCAplus. genetic testing for hereditary breast cancer BRCAplus genetic testing for hereditary breast cancer Developed in collaboration with Fox Chase Cancer Center and the Arcadia University Genetic Counseling Program. Causes of Hereditary Breast Cancer familial

More information

Genetic testing and pancreatic disease

Genetic testing and pancreatic disease Genetic testing and pancreatic disease February 2 d, 2018 Yale Pancreas Symposium 2018: Multidisciplinary Management of Pancreatic Cancer Xavier Llor, M.D., PhD. Associate Professor of Medicine Co-Director,

More information

Be Ready Pack Learn more about how Myriad myrisk is revolutionizing hereditary cancer testing.

Be Ready Pack Learn more about how Myriad myrisk is revolutionizing hereditary cancer testing. Be Ready Pack Learn more about how Myriad myrisk is revolutionizing hereditary cancer testing. Hereditary cancer and you Approximately 5% to 10% of all cancers develop because a person inherited a genetic

More information

Genetic Testing: who, what, why?

Genetic Testing: who, what, why? Genetic Testing: who, what, why? Gina Westhoff MD LMG Gynecologic Oncology March 16, 2019 Disclosures Speaker for Merck (unrelated to today s topic) Objectives Determine who should undergo genetic risk

More information

Hereditary Cancer Products

Hereditary Cancer Products Hereditary Products Integrated BRACAnalysis (BRCA1 and BRCA2 sequencing and large rearrangement testing (BART)), covered when: PERSONAL HISTORY of Breast (must meet at least 1) Diagnosed

More information

Genetic Testing for Familial Gastrointestinal Cancer Syndromes. C. Richard Boland, MD La Jolla, CA January 21, 2017

Genetic Testing for Familial Gastrointestinal Cancer Syndromes. C. Richard Boland, MD La Jolla, CA January 21, 2017 Genetic Testing for Familial Gastrointestinal Cancer Syndromes C. Richard Boland, MD La Jolla, CA January 21, 2017 Disclosure Information C. Richard Boland, MD I have no financial relationships to disclose.

More information

Are you at risk of Hereditary Cancer? Your Guide to the Answers

Are you at risk of Hereditary Cancer? Your Guide to the Answers Are you at risk of Hereditary Cancer? Your Guide to the Answers What is Hereditary Cancer? The genes we are born with may contribute to our risk of developing certain types of cancer, including breast,

More information

Objectives. Genetics in Cancer Treatment and Prevention. Genes

Objectives. Genetics in Cancer Treatment and Prevention. Genes Objectives Genetics in Cancer Treatment and Prevention Cheryl LaFlore, ARNP, MSN, BC Understand how to integrate genetic and genomic information into oncology nursing practice Define the role of an oncology

More information

CentoCancer STRIVE FOR THE MOST COMPLETE INFORMATION

CentoCancer STRIVE FOR THE MOST COMPLETE INFORMATION CentoCancer STRIVE FOR THE MOST COMPLETE INFORMATION CentoCancer our most comprehensive oncogenetics panel for hereditary mutations Hereditary pathogenic variants confer an increased risk of developing

More information

Understanding Your Positive Result. A guide to understanding your risk and taking action

Understanding Your Positive Result. A guide to understanding your risk and taking action Understanding Your Positive Result A guide to understanding your risk and taking action 2017 Myriad Genetics, Inc. 320 Wakara Way, Salt Lake City, Utah 84108 PH: 1-800-469-7423 FX: 801-584-3615 1 PART

More information

Genetic Testing Today: What Genes Can Tell Us. Living Beyond Breast Cancer Conference Kara N. Maxwell, MD, PhD University of Pennsylvania

Genetic Testing Today: What Genes Can Tell Us. Living Beyond Breast Cancer Conference Kara N. Maxwell, MD, PhD University of Pennsylvania Genetic Testing Today: What Genes Can Tell Us Living Beyond Breast Cancer Conference Kara N. Maxwell, MD, PhD University of Pennsylvania Overview of talk PART 1: Overview of Genetics PART 2: BRCA1/2 PART

More information

OvaNext. patient guide. genetic testing for hereditary breast, ovarian, and uterine cancer

OvaNext. patient guide. genetic testing for hereditary breast, ovarian, and uterine cancer patient guide OvaNext genetic testing for hereditary breast, ovarian, and uterine cancer Because knowing your risk can mean early detection and prevention About half of the women diagnosed with uterine

More information

Versus. Cancer genomics Competitive Analysis

Versus. Cancer genomics Competitive Analysis Cancer genomics Competitive Analysis Versus AGH Competitor #1 MYRIAD GENETICS, INC. Headquarters: UT, USA & Switzerland Publicly Traded Company - MYGN Founded: 1992 Company Size: 1001-5000 employees (source:

More information

Genetic testing for hereditary cancer

Genetic testing for hereditary cancer Genetic testing for hereditary cancer THE GENETICS OF HEREDITARY CANCER About half of all men and one-third of all women in the US will develop cancer during their lifetimes. Approximately 5% to 10% of

More information

Genetic Risk Assessment for Cancer

Genetic Risk Assessment for Cancer Genetic Risk Assessment for Cancer Jennifer Siettmann, MS CGC Certified Genetic Counselor Banner MD Anderson Cancer Center Objectives Describe the role of genetic counseling and genetic testing in patient

More information

Multigene Panel Testing for Hereditary Cancer Risk

Multigene Panel Testing for Hereditary Cancer Risk Multigene Panel Testing for Hereditary Cancer Risk Dana Zakalik, M.D. Director, Nancy and James Grosfeld Cancer Genetics Center Professor, OUWB Medical School MCC Annual Meeting November 4, 2015 Outline

More information

Hereditary Cancer Update Strengthening Linkages Workshop April 22, 2017

Hereditary Cancer Update Strengthening Linkages Workshop April 22, 2017 Hereditary Cancer Update Strengthening Linkages Workshop April 22, 2017 Renée Perrier, MD MSc FRCPC Clinical Assistant Professor University of Calgary, Department of Medical Genetics Medical Director,

More information

Reference #: SYS-PC-VPCI-CG-002. Origination Date: June 2012 Next Review Date: April 2019 Effective Date: April 2016

Reference #: SYS-PC-VPCI-CG-002. Origination Date: June 2012 Next Review Date: April 2019 Effective Date: April 2016 Oncology Service Line-Allina Health System-wide Consensus Guidelines: Identification of Breast Cancer Patients at Risk for Inherited Cancer Risks These guidelines apply to clinical interventions that have

More information

Medicina de precisión en cáncer de ovario: Determinación de BRCA germinal y somático

Medicina de precisión en cáncer de ovario: Determinación de BRCA germinal y somático Medicina de precisión en cáncer de ovario: Determinación de BRCA germinal y somático Dra. Cristina Martin Lorente Hospital de la Santa Creu i Sant Pau. Barcelona Introduction Ovarian cancer is the fifth

More information

Hereditary Cancer Risk Assessment for Gynecological Cancers. FarrNezhatMD.com

Hereditary Cancer Risk Assessment for Gynecological Cancers. FarrNezhatMD.com Hereditary Cancer Risk Assessment for Gynecological Cancers FarrNezhatMD.com Image credit: PLOS blogs 5-10% hereditary 10-20% 70-80% sporadic Genetic Changes and Cancer Cancer begins with a genetic

More information

Assessing Your Patient s Breast Cancer Risk: Is Genetic Testing Necessary?

Assessing Your Patient s Breast Cancer Risk: Is Genetic Testing Necessary? May 16, 2016 Assessing Your Patient s Breast Cancer Risk: Is Genetic Testing Necessary? Presenter: Emily Kuchinsky, MS, CGC 1 Experiences with Genetic Testing Adverse Events in Cancer Genetic Testing:

More information

Use of panel tests in place of single gene tests in the cancer genetics clinic

Use of panel tests in place of single gene tests in the cancer genetics clinic Clin Genet 2015: 88: 278 282 Printed in Singapore. All rights reserved CLINICAL GENETICS doi: 10.1111/cge.12488 Short Report se of panel tests in place of single gene tests in the cancer genetics clinic

More information

GEN ETICS AN D GEN OM ICS IN CANCER PREVENTION AN D TREATM EN T. Robert Nathan Slotnick MD PhD Director, Medical Genetics and Genomics

GEN ETICS AN D GEN OM ICS IN CANCER PREVENTION AN D TREATM EN T. Robert Nathan Slotnick MD PhD Director, Medical Genetics and Genomics GEN ETICS AN D GEN OM ICS IN CANCER PREVENTION AN D TREATM EN T Robert Nathan Slotnick MD PhD Director, Medical Genetics and Genomics The Medical/Surgical/Radiation Oncologist s View of Genetics Cancer

More information

Hereditary Breast and Ovarian Cancer Rebecca Sutphen, MD, FACMG

Hereditary Breast and Ovarian Cancer Rebecca Sutphen, MD, FACMG Hereditary Breast and Ovarian Cancer 2015 Rebecca Sutphen, MD, FACMG Among a consecutive series of 11,159 women requesting BRCA testing over one year, 3874 responded to a mailed survey. Most respondents

More information

A pathogenic mutation was identified in the BRCA1 gene.

A pathogenic mutation was identified in the BRCA1 gene. Hereditary Cancer Risk Test ORDERING PHYSICIAN Dr. Jenny Jones Sample Medical Group 123 Main St. Sample, CA SPECIMEN Type: Saliva Barcode: 223 234234 2343 Collected: Apr 13, 2016 Received: Apr 14, 2016

More information

Managing Moderate Penetrance

Managing Moderate Penetrance Managing Moderate Penetrance Thomas Slavin, MD, FACMG Assistant Clinical Professor, Department of Medical Oncology, Division of Clinical Cancer Genetics Program Member, Cancer Control and Population Sciences

More information

patient guide BreastNext genetic testing for hereditary breast cancer Because knowing your risk can mean early detection and prevention

patient guide BreastNext genetic testing for hereditary breast cancer Because knowing your risk can mean early detection and prevention patient guide BreastNext genetic testing for hereditary breast cancer Because knowing your risk can mean early detection and prevention Know the Basics Breast cancer is the most common cancer in women

More information

Genetic Testing For Ovarian Cancer: When, How And Who? Judith Balmaña, MD, PhD University Hospital Vall d Hebron Barcelona, Spain

Genetic Testing For Ovarian Cancer: When, How And Who? Judith Balmaña, MD, PhD University Hospital Vall d Hebron Barcelona, Spain Genetic Testing For Ovarian Cancer: When, How And Who? Judith Balmaña, MD, PhD University Hospital Vall d Hebron Barcelona, Spain Why Would We Consider Genetic Testing in Patients With Ovarian Cancer?

More information

COLON CANCER & GENETICS VERMONT COLORECTAL CANCER SUMMIT NOVEMBER 15, 2014

COLON CANCER & GENETICS VERMONT COLORECTAL CANCER SUMMIT NOVEMBER 15, 2014 COLON CANCER & GENETICS VERMONT COLORECTAL CANCER SUMMIT NOVEMBER 15, 2014 WENDY MCKINNON, MS, CGC CERTIFIED GENETIC COUNSELOR FAMILIAL CANCER PROGRAM UNIVERSIT Y OF VERMONT MEDICAL CENTER 1 CHARACTERISTICS

More information

6/8/17. Genetics 101. Professor, College of Medicine. President & Chief Medical Officer. Hereditary Breast and Ovarian Cancer 2017

6/8/17. Genetics 101. Professor, College of Medicine. President & Chief Medical Officer. Hereditary Breast and Ovarian Cancer 2017 Genetics 101 Hereditary Breast and Ovarian Cancer 2017 Rebecca Sutphen, MD, FACMG Professor, College of Medicine President & Chief Medical Officer INVASIVE CANCER GENETICALLY ALTERED CELL HYPERPLASIA DYSPLASIA

More information

Management of BRCA Positive Breast Cancer. Archana Ganaraj, MD February 17, 2018 UPDATE ON WOMEN S HEALTH

Management of BRCA Positive Breast Cancer. Archana Ganaraj, MD February 17, 2018 UPDATE ON WOMEN S HEALTH Management of BRCA Positive Breast Cancer Archana Ganaraj, MD February 17, 2018 UPDATE ON WOMEN S HEALTH The number of American women who have lost their lives to breast cancer outstrips the total number

More information

Genetic Risk Assessment for Cancer

Genetic Risk Assessment for Cancer Genetic Risk Assessment for Cancer Jennifer Siettmann, MS CGC Certified Genetic Counselor/Cancer Risk Counselor Banner Good Samaritan Cancer Screening & Prevention Program Objectives Describe the role

More information

Hereditary Cancer Update: What do GPOs need to know?

Hereditary Cancer Update: What do GPOs need to know? Hereditary Cancer Update: What do GPOs need to know? Mary McCullum, RN, MSN, CON(C) Nurse Educator, Hereditary Cancer Program BC Cancer Agency October 1, 2016 Conflict of Interest Disclosure Nothing to

More information

CASE STUDY. Mutation-Specific Testing: Eligibility for PARP Inhibitor Therapy Established. Introduction. Patient Profile.

CASE STUDY. Mutation-Specific Testing: Eligibility for PARP Inhibitor Therapy Established. Introduction. Patient Profile. CASE STUDY Mutation-Specific Testing: Eligibility for PARP Introduction Genetic testing is an emergent diagnostic technique that can provide specific and actionable inputs to the management of cancer therapy.

More information

Disclosure. Gynecologic Cancer Genetics. Audience response. Audience response. What was the result? 47%

Disclosure. Gynecologic Cancer Genetics. Audience response. Audience response. What was the result? 47% Disclosure Cancer Genetics I have served as a moderator for an advisory board to Genentech Lee-may Chen, M.D. Professor Department of Obstetrics, Gynecology, & Reproductive Sciences UCSF Obstetrics and

More information

The Value of Panel Testing in Inherited Breast Cancer Risk Assessment. Rodney J. Scott Division of Molecular Medicine

The Value of Panel Testing in Inherited Breast Cancer Risk Assessment. Rodney J. Scott Division of Molecular Medicine The Value of Panel Testing in Inherited Breast Cancer Risk Assessment Rodney J. Scott Division of Molecular Medicine Mutation Detection Next Generation DNA sequencing has revolutionised mutation detection

More information

Genetics and Cancer Care. Cynthia Forster-Gibson, MD, PhD and Loren Mackay- Loder, MSc Genetics Program, THP

Genetics and Cancer Care. Cynthia Forster-Gibson, MD, PhD and Loren Mackay- Loder, MSc Genetics Program, THP Genetics and Cancer Care Cynthia Forster-Gibson, MD, PhD and Loren Mackay- Loder, MSc Genetics Program, THP Faculty/Presenter Disclosure Faculty: Cynthia Forster-Gibson Relationships with commercial interests:

More information

Genetic Panel Testing and Implications for Cancer Care

Genetic Panel Testing and Implications for Cancer Care Genetic Panel Testing and Implications for Cancer Care Dana Zakalik, M.D. Nancy and James Grosfeld Cancer Genetics Center Professor, OUWB Medical School MCC Board of Directors Meeting September 28, 2016

More information

Multiple gene sequencing for risk assessment in patients with early-onset or familial breast cancer

Multiple gene sequencing for risk assessment in patients with early-onset or familial breast cancer www.impactjournals.com/oncotarget/ Oncotarget, Supplementary Materials 2016 Multiple gene sequencing for risk assessment in patients with early-onset or familial breast cancer Supplementary Materials Supplementary

More information

Update on PARP inhibitors: opportunities and challenges in cancer therapy

Update on PARP inhibitors: opportunities and challenges in cancer therapy Update on PARP inhibitors: opportunities and challenges in cancer therapy Vanda Salutari Unità di Ginecologia Oncologica Fondazione Policlinico Universitario A. Gemelli vanda.salutari@policlinicogemelli.it

More information

Precision Genetic Testing in Cancer Treatment and Prognosis

Precision Genetic Testing in Cancer Treatment and Prognosis Precision Genetic Testing in Cancer Treatment and Prognosis Deborah Cragun, PhD, MS, CGC Genetic Counseling Graduate Program Director University of South Florida Case #1 Diana is a 47 year old cancer patient

More information

Yes when meets criteria below. Dean Health Plan covers when Medicare also covers the benefit.

Yes when meets criteria below. Dean Health Plan covers when Medicare also covers the benefit. Genetic Testing for Lynch Syndrome MP9487 Covered Service: Prior Authorization Required: Additional Information: Yes when meets criteria below Yes-as shown below Pre and post test genetic counseling is

More information

Enabling Personalized

Enabling Personalized Molecular Enabling Personalized Diagnostics Medicine- Targeted Sequencing: NGS-based solutions Silvia Dorn Roel Reinders- Andreas Diplas Friday, 19.06.2015 Company Overview Founded in April 2011 Development

More information

Germline Genetic Testing for Breast Cancer Risk

Germline Genetic Testing for Breast Cancer Risk Kathmandu, Bir Hospital visit, August 2018 Germline Genetic Testing for Breast Cancer Risk Evidence-based Genetic Screening Rodney J. Scott Demography in New South Wales (total population ~ 7,000,000)

More information

PREPARED FOR: U.S. Army Medical Research and Materiel Command Fort Detrick, Maryland

PREPARED FOR: U.S. Army Medical Research and Materiel Command Fort Detrick, Maryland AWARD NUMBER: W81XWH-13-1-0421 TITLE: The Fanconi Anemia BRCA Pathway as a Predictor of Benefit from Bevacizumab in a Large Phase III Clinical Trial in Ovarian Cancer PRINCIPAL INVESTIGATOR: Elizabeth

More information

Carol Christianson, MS, CGC Genetic Counselor West Michigan Cancer Center

Carol Christianson, MS, CGC Genetic Counselor West Michigan Cancer Center Carol Christianson, MS, CGC Genetic Counselor West Michigan Cancer Center Following this presentation you will be able to: Identify cancer survivors in your practice who might benefit from genetic counseling

More information

Genetic Testing for Lynch Syndrome

Genetic Testing for Lynch Syndrome Genetic Testing for Lynch Syndrome MP9487 Covered Service: Prior Authorization Required: Additional Information: Yes when meets criteria below Yes-as shown below Pre and post-test genetic counseling is

More information

Objectives. Case Study #1 1/28/14. A Collaborative Practice Approach to Genetic Testing in Cancer: Translating Science Into Clinical Practice

Objectives. Case Study #1 1/28/14. A Collaborative Practice Approach to Genetic Testing in Cancer: Translating Science Into Clinical Practice A Collaborative Practice Approach to Genetic Testing in Cancer: Translating Science Into Clinical Practice Heather Hampel, MS, CGC Associate Director, Division of Human Genetics Professor, Department of

More information

Forward Looking Statements

Forward Looking Statements Forward Looking Statements Some of the information presented here today may contain projections or other forward-looking statements regarding future events or the future financial performance 15M Patient

More information

THE MODERN GYNECOLOGIC EXAMINATION & SCREENING FOR GYNECOLOGIC MALIGNANCIES

THE MODERN GYNECOLOGIC EXAMINATION & SCREENING FOR GYNECOLOGIC MALIGNANCIES THE MODERN GYNECOLOGIC EXAMINATION & SCREENING FOR GYNECOLOGIC MALIGNANCIES Denise Uyar, MD Associate Professor OB/GYN Chief Gynecologic Oncology Medical College of Wisconsin April 12, 2019 NO DISCLOSURES

More information

MEDICAL POLICY Genetic Testing for Breast and Ovarian Cancers

MEDICAL POLICY Genetic Testing for Breast and Ovarian Cancers POLICY: PG0067 ORIGINAL EFFECTIVE: 07/30/02 LAST REVIEW: 01/25/18 MEDICAL POLICY Genetic Testing for Breast and Ovarian Cancers GUIDELINES This policy does not certify benefits or authorization of benefits,

More information

Clinical Cancer Genetics

Clinical Cancer Genetics Clinical Cancer Genetics Lisen Axell, MS, CGC University of Colorado Cancer Center Individuals with cancer Making surgical decisions (lump vs. mast) Making treatment decisions (XRT) Concerns for additional

More information

Genetic Cancer Susceptibility Panels Using Next Generation Sequencing

Genetic Cancer Susceptibility Panels Using Next Generation Sequencing Genetic Cancer Susceptibility Panels Using Next Generation Sequencing Policy Number: 2.04.93 Last Review: 7/2017 Origination: 7/2013 Next Review: 7/2018 Policy Blue Cross and Blue Shield of Kansas City

More information

MSI positive MSI negative

MSI positive MSI negative Pritchard et al. 2014 Supplementary Figure 1 MSI positive MSI negative Hypermutated Median: 673 Average: 659.2 Non-Hypermutated Median: 37.5 Average: 43.6 Supplementary Figure 1: Somatic Mutation Burden

More information

Identification of patients suggestive of hereditary breast and ovarian cancer syndrome that warrants further professional evaluation.

Identification of patients suggestive of hereditary breast and ovarian cancer syndrome that warrants further professional evaluation. Allina Breast Program Committee Consensus Guidelines These guidelines apply to clinical interventions that have well-documented outcomes, but whose outcomes are not clearly desirable to all patients Identification

More information

Feasibility of Clinical Trial Implementation Genetically Eligible Prostate Cancer Patients Oliver Sartor, MD Cathryn E, Garvey, MS December 3, 2015

Feasibility of Clinical Trial Implementation Genetically Eligible Prostate Cancer Patients Oliver Sartor, MD Cathryn E, Garvey, MS December 3, 2015 Feasibility of Clinical Trial Implementation Genetically Eligible Prostate Cancer Patients Oliver Sartor, MD Cathryn E, Garvey, MS December 3, 2015 Study Name Feasibility of Patient Population for proposed

More information

MP Genetic Testing for BRCA1 or BRCA2 for Hereditary Breast/Ovarian Cancer Syndrome and Other High-Risk Cancers

MP Genetic Testing for BRCA1 or BRCA2 for Hereditary Breast/Ovarian Cancer Syndrome and Other High-Risk Cancers Medical Policy MP 2.04.02 Genetic Testing for BRCA1 or BRCA2 for Hereditary Breast/Ovarian Cancer Syndrome and Other High-Risk BCBSA Ref. Policy: 2.04.02 Last Review: 11/15/2018 Effective Date: 02/15/2019

More information

Genetic counseling and testing. Shani Paluch-Shimon, MBBS, MSc Director, Breast Oncology Unit Shaare Zedek Medical Centre, Jerusalem Israel

Genetic counseling and testing. Shani Paluch-Shimon, MBBS, MSc Director, Breast Oncology Unit Shaare Zedek Medical Centre, Jerusalem Israel Genetic counseling and testing Shani Paluch-Shimon, MBBS, MSc Director, Breast Oncology Unit Shaare Zedek Medical Centre, Jerusalem Israel Disclosures Roche: Speakers bureau, honoraria, consultancy Astra

More information

Key Recommendations. Gynecologic management of women with inherited risk of gynecologic cancer

Key Recommendations. Gynecologic management of women with inherited risk of gynecologic cancer Gynecologic management of women with inherited risk of gynecologic cancer C. Bethan Powell MD Kaiser Permanente Northern California Gynecologic Oncology Program Lead, Kaiser Permanente Northern California

More information

patient guide ProstateNext genetic testing for hereditary prostate cancer Because knowing your risk can mean early detection and prevention

patient guide ProstateNext genetic testing for hereditary prostate cancer Because knowing your risk can mean early detection and prevention patient guide ProstateNext genetic testing for hereditary prostate cancer Because knowing your risk can mean early detection and prevention Know the Basics Prostate cancer is the most common cancer in

More information

Genetic Testing for BRCA1 and BRCA2 Genes

Genetic Testing for BRCA1 and BRCA2 Genes Genetic Testing for BRCA1 and BRCA2 Genes MP9478 Covered Service: Prior Authorization Required: Additional Information: Yes when meets criteria below Yes as shown below Pre and post-test genetic counseling

More information

Ricombinazione omologa nel carcinoma ovarico: BRCA e oltre. F. Raspagliesi MD

Ricombinazione omologa nel carcinoma ovarico: BRCA e oltre. F. Raspagliesi MD Ricombinazione omologa nel carcinoma ovarico: BRCA e oltre F. Raspagliesi MD raspagliesi@istitutotumori.mi.it BRCA molecular signature in ovarian cancer In a pooled analysis of 26 observational studies

More information

patient guide PancNext genetic testing for hereditary pancreatic c a ncer Because knowing your risk can mean early detection and prevention

patient guide PancNext genetic testing for hereditary pancreatic c a ncer Because knowing your risk can mean early detection and prevention patient guide PancNext genetic testing for hereditary pancreatic c a ncer Because knowing your risk can mean early detection and prevention Know the Basics Risk factors for developing pancreatic cancer

More information

CASE STUDY. Germline Cancer Testing in A Proband: Extension of Benefits to Unaffected Family Members. Introduction. Patient Profile.

CASE STUDY. Germline Cancer Testing in A Proband: Extension of Benefits to Unaffected Family Members. Introduction. Patient Profile. CASE STUDY Germline Cancer Testing in A Proband: Extension of Benefits to Unaffected Family Members Introduction Most cancers are caused by genetic damage resulting from random mutations and exposure to

More information

Targeted therapy & Tumor molecular profile. Anton Tikhonov V Bioinformatics Summer School, 2017

Targeted therapy & Tumor molecular profile. Anton Tikhonov V Bioinformatics Summer School, 2017 Targeted therapy & Tumor molecular profile Anton Tikhonov V Bioinformatics Summer School, 2017 What exactly is targeted therapy? It has target It was rationally designed Its target was discovered before

More information

Prior Authorization. Additional Information:

Prior Authorization. Additional Information: Genetic Testing for Lynch Syndrome MP9487 Covered Service: Prior Authorization Required: Additional Information: Yes when meets criteria below Yes-as shown below Pre and post test genetic counseling is

More information

Medical Policy An independent licensee of the Blue Cross Blue Shield Association

Medical Policy An independent licensee of the Blue Cross Blue Shield Association BRCA1 and BRCA2 Testing Page 1 of 33 Medical Policy An independent licensee of the Blue Cross Blue Shield Association Title: BRCA1 and BRCA2 Testing Pre-Determination of Services IS REQUIRED by the Member

More information

Corporate Medical Policy Genetic Testing for Breast and Ovarian Cancer

Corporate Medical Policy Genetic Testing for Breast and Ovarian Cancer Corporate Medical Policy Genetic Testing for Breast and Ovarian Cancer File Name: Origination: Last CAP Review: Next CAP Review: Last Review: genetic_testing_for_breast_and_ovarian_cancer 8/1997 8/2017

More information

Myriad Genetics mychoice HRD Update 06/30/2016

Myriad Genetics mychoice HRD Update 06/30/2016 Myriad Genetics mychoice HRD Update 06/30/2016 1 Forward Looking Statements Some of the information presented here today may contain projections or other forward-looking statements regarding future events

More information

2/21/2016. Cancer Precision Medicine: A Primer. Ovarian Cancer Statistics and Standard of Care in 2015 OUTLINE. Background

2/21/2016. Cancer Precision Medicine: A Primer. Ovarian Cancer Statistics and Standard of Care in 2015 OUTLINE. Background Cancer Precision Medicine: A Primer Rebecca C. Arend, MD Division of Gyn Oncology OUTLINE Background Where we are Where we have been Where we are going Targeted Therapy in Ovarian Cancer How to Individualized

More information

CASE STUDY. Germline Test for Mother and Follow up Testing for Daughter: Assessment of Hereditary Cancer Risk. Introduction.

CASE STUDY. Germline Test for Mother and Follow up Testing for Daughter: Assessment of Hereditary Cancer Risk. Introduction. CASE STUDY Germline Test for Mother and Follow up Testing for Daughter: Assessment of Hereditary Cancer Risk Introduction Germline cancer risk assessment tests are well-prescribed tests from Strand Life

More information

Proactive Patient Paves the Way for Genetic Testing of Eight Family Members

Proactive Patient Paves the Way for Genetic Testing of Eight Family Members CASE STUDY Proactive Patient Paves the Way for Genetic Testing of Eight Family Members Quick Summary Samar Mohite * was diagnosed with colon adenocarcinoma at the age of 49 years. Genetic counselling was

More information

GENETIC TESTING FOR HEREDITARY CANCER

GENETIC TESTING FOR HEREDITARY CANCER UnitedHealthcare Oxford Clinical Policy GENETIC TESTING FOR HEREDITARY CANCER Policy Number: DIAGNOSTIC 004.27 T2 Effective Date: November 1, 2017 Table of Contents Page INSTRUCTIONS FOR USE... 1 CONDITIONS

More information

PARP inibitori nel trattamento del carcinoma mammario metastatico: recenti successi e prospettive future.

PARP inibitori nel trattamento del carcinoma mammario metastatico: recenti successi e prospettive future. PARP inibitori nel trattamento del carcinoma mammario metastatico: recenti successi e prospettive future. Dr.ssa Angela Toss Centro Oncologico Modenese Università di Modena e Reggio Emilia MECHANISMS OF

More information

Genetic Testing for BRCA1 and BRCA2 Genes

Genetic Testing for BRCA1 and BRCA2 Genes Genetic Testing f BRCA1 and BRCA2 Genes MP9478 Covered Service: Pri Authization Required: Additional Infmation: Yes when meets criteria below Yes--as shown below Pre and post-test genetic counseling is

More information

Genetic Determinants, Risk Assessment and Management

Genetic Determinants, Risk Assessment and Management Genetic Determinants, Risk Assessment and Management Rachel Rando, MS, CGC Genetic Counselor Hunterdon Regional Cancer Center Flemington, NJ I have no disclosures. Acknowledgements: Staff of Hunterdon

More information

"Genetic Testing and Genetic Counseling in Prostate Cancer"

Genetic Testing and Genetic Counseling in Prostate Cancer National Alliance of State Prostate Cancer Coalitions Webinar Series "Genetic Testing and Genetic Counseling in Prostate Cancer" Leonard G. Gomella, MD Chairman Department of Urology Sidney Kimmel Cancer

More information

PARP Inhibitors: Patients Selection. Dr. Cristina Martin Lorente Hospital de la Santa Creu i Sant Pau Formigal, June 23th 2016

PARP Inhibitors: Patients Selection. Dr. Cristina Martin Lorente Hospital de la Santa Creu i Sant Pau Formigal, June 23th 2016 PARP Inhibitors: Patients Selection Dr. Cristina Martin Lorente Hospital de la Santa Creu i Sant Pau Formigal, June 23th 2016 OVARIAN CANCER (OC): MULTIPLES DISEASES Different types with different behaviour

More information

Information for You and Your Family

Information for You and Your Family Information for You and Your Family What is Prevention? Cancer prevention is action taken to lower the chance of getting cancer. In 2017, more than 1.6 million people will be diagnosed with cancer in the

More information

DNA Genetic Cancer Risk Test. Test Report

DNA Genetic Cancer Risk Test. Test Report Test Report CONTENTS SECTION 1 1-1. Customer Information 1-2. Test Report Summary 1-3. Test Report Details 1-4. List of Cancers / Tumors Tested SECTION 2 2-1. About the Test 2-2. References 1 CL0040-1_B

More information