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