Session 15 PD, Genetic Testing. Moderator: Lina S. Chan, FSA, MAAA. Presenters: Bill Rooney, MD Heather Shappell, CGC, MS

Transcription

1 Session 15 PD, Genetic Testing Moderator: Lina S. Chan, FSA, MAAA Presenters: Bill Rooney, MD Heather Shappell, CGC, MS SOA Antitrust Disclaimer SOA Presentation Disclaimer

2 Session 15: Moderator: Expert Panel: Genetic Testing Lina S. Chan, FSA, MAAA CP Risk Solutions, LLC William R. Rooney, MD, FAAFP, EMBA Scor Re Heather L. Shappell, MS, CGC BeaconLBS October 24 th, 2016

3 SOCIETY OF ACTUARIES Antitrust Notice for Meetings Active participation in the Society of Actuaries is an important aspect of membership. However, any Society activity that arguably could be perceived as a restraint of trade exposes the SOA and its members to antitrust risk. Accordingly, meeting participants should refrain from any discussion which may provide the basis for an inference that they agreed to take any action relating to prices, services, production, allocation of markets or any other matter having a market effect. These discussions should be avoided both at official SOA meetings and informal gatherings and activities. In addition, meeting participants should be sensitive to other matters that may raise particular antitrust concern: membership restrictions, codes of ethics or other forms of self-regulation, product standardization or certification. The following are guidelines that should be followed at all SOA meetings, informal gatherings and activities: DON T discuss your own, your firm s, or others prices or fees for service, or anything that might affect prices or fees, such as costs, discounts, terms of sale, or profit margins. DON T stay at a meeting where any such price talk occurs. DON T make public announcements or statements about your own or your firm s prices or fees, or those of competitors, at any SOA meeting or activity. DON T talk about what other entities or their members or employees plan to do in particular geographic or product markets or with particular customers. DON T speak or act on behalf of the SOA or any of its committees unless specifically authorized to do so. DO alert SOA staff or legal counsel about any concerns regarding proposed statements to be made by the association on behalf of a committee or section. DO consult with your own legal counsel or the SOA before raising any matter or making any statement that you think may involve competitively sensitive information. DO be alert to improper activities, and don t participate if you think something is improper. If you have specific questions, seek guidance from your own legal counsel or from the SOA s Executive Director or legal counsel. 2

4 Presentation Disclaimer Presentations are intended for educational purposes only and do not replace independent professional judgment. Statements of fact and opinions expressed are those of the participants individually and, unless expressly stated to the contrary, are not the opinion or position of the Society of Actuaries, its cosponsors or its committees. The Society of Actuaries does not endorse or approve, and assumes no responsibility for, the content, accuracy or completeness of the information presented. Attendees should note that the sessions are audio-recorded and may be published in various media, including print, audio and video formats without further notice. 3

5 Moderator Lina S. Chan, FSA, MAAA Managing partner and founder of CP Risk Solutions Nearly thirty years of underwriting, actuarial and risk management experience in the life and health insurance industry. Genetic testing analytical work 4

6 Expert Panel William R. Rooney, MD, FAAFP, EMBA Vice President and Medical Director at SCOR Global Life Reinsurance Physician executive with over 20 years of direct clinical experience, 7 years of experience as a health insurance medical director, and now 4 years of experience as a life insurance medical director. Frequent speaker at industry events Clinical journal contributor 5

7 Expert Panel Heather L. Shappell, MS, CGC Vice President, Clinical Integrity and Innovation at BeaconLBS Board-Certified Genetic Counselor Nationally recognized leader in developing innovative, responsible approaches to the delivery of clinically appropriate genomic medicine Founder of the first telephonic clinical genetic counseling service, InformedDNA. The chosen partner for national health plans requiring genetic counseling. 6

8 Polling Question: I believe genetic testing helps doctors diagnose preventable conditions and offers more personalized treatment options. 1. Agree 2. Disagree 3. Don t Know 86% 4% 10%

9 Polling Question: I am familiar with genetic testing. 1. Yes 2. No 52% 48% 1 2 8

10 Molecular/Genetic Testing 9

11 Clinical Case A 44 year old female has a strong family history of cancer Mother: Breast Dx 49 y/o M GM: Ovarian Dx 62 y/o M Uncle x 2: Prostate Dx 53 and 58 y/o BRCA testing done in 2001 reported to be negative. Her 45 y/o sister was very recently diagnosed with breast cancer Her sister s BRCA 1 testing is positive What are the considerations in this case? 10

12 Human DNA mrna Watson and Crick in 1953 unraveled the DNA structure DNA when compared to a ladder has: The backbone of a polymer of sugar and phosphate groups The steps consisting of 4 nucleobases: Adenine Thymine Cytosine Guanine A and T always combine and C and G always combine A, C, T, and G are the blueprint for all life forms on the planet Protein 11

13 Sequence matters! Exons and Introns Exons Introns Take one of these strands and stretch it mrna 12

14 Sequence Sequence matters matters! Polymer of sugar and phosphate groups Nucleobases Deletions Adenine Thymine Cytosine Guanine Insertions Switches Repeats 13

15 Abnormal mrna mrna Abnormal Protein Protein Sequence Does Matter! Protein function: Cell Structure Cell Function Cell Regulation Examples of Protein function: Antibodies Enzymes Structural component Transport -Protein_primary_structure.svg.png Image downloaded 8/5/16 from Bing free to modify, share, and use commercially L2_L3&adlt=strict&id=327BD63212E32BB7A857458B7357B1C1F3E7F31B&selectedIndex=11&ccid=Ft2uSk4j &simid= &thid=oip.m16ddae4a4e23e52d43fc31b9b o0&ajaxhist=0 Image downloaded 8/5/16 from Bing free to modify, share, and use commercially

16 Human Genome Project Cost for sequencing a human genome 2004 ~$28,800, ~$1,000 Topol, Eric Individualized Medicine from Prewomb to Tomb. Cell 157 March 27,2014 Human Genome Project Results 2000 genetic tests for human conditions 350 biotechnology products in clinical trials >1800 disease genes discovered NIH.gov Accessed 8/26/

17 Human DNA 3 billion letters Nucleotide Base Pairs An Analogy With 23,000 books Genes 23 shelves Chromosomes 16

18 Chromosomes 17

19 Examples of genetic location for some common diseases Hypertrophic Cardiomyopathy TNNT2 gene 1q32 Huntington Disease HTT gene 4p16.3 Hypertrophic Cardiomyopathy MYBPC3 gene 11p11.2 BRCA 2 gene 13q12.3 BRCA 1 gene 17q21 Hypertrophic Cardiomyopathy MYH7 gene 14q12 Hypertrophic Cardiomyopathy TNNI3 gene 19q13.4 Among Others 18

20 Making this whole topic more complex is Abnormal gene Penetrance Full Incomplete Variable Disease Variable expressivity Age Mutation type Genetic heterogenity Environmental exposure Genetic modifiers Parent-of-origin effects (i.e. Prader-Willi Syndrome) Sex-limited expression (i.e. male pattern baldness) Anticipation Mosaicism 19

21 Genetic Testing TYPES Perinatal screening Preimplantation Prenatal testing Fetal DNA Newborn screening Carrier Testing Pre-symptomatic predictive testing Diagnostic testing Pharmacogenetic testing TESTS Currently testing available for >1,000 conditions ~10% increase in genetic test availability each year >200 genetic tests clinically available to detect cancers. Robson, Mark E et al. American Society of Clinical Oncology Policy Statement Update: Genetic and Genomic Testing for Cancer Susceptibility Journal of Clinical Oncology

22 Test Results Category Pathogenic Likely Pathogenic Variants of uncertain significance Likely benign Benign Characteristics Variant previously associated as cause of the disorder Variant expected to cause the disorder Variant that might be causative Variant probably not causative Variant recognized as neutral 21

23 Genetic Testing---Who to test? Mutation found Family member with known disease Test for that specific mutation in family members Unaffected individual Increased chance for inconclusive results If test is negative, is it: Because that gene is not mutated in the family?? or The mutation does exist in the family but the tested person doesn t have it?? 22

24 Timeline of discoveries Darwin 1859 Mendel 1865 Watson and Crick 1953 Human Genome Project Started Completed Today August 31 st, 2016 Huntington genetic basis discovered 1993 BRCA 1 gene discovered 1994 BRCA 2 gene discovered 1995 August 31 st, BRCA 1/2 testing became clinically available 1996 BRCA rearrangement panel 2002 BRCA test enhanced with large genomic rearrangements

25 BRCA 1 and 2 Description: BRCA genes Make proteins which helps repair damaged DNA Components of the disorder: Mutations can adversely modify the manufactured proteins and therefore increase cancer risk: Breast» BRCA 1: Women: ~55-70% risk by age 70 Male: ~1%» BRCA 2: Women: ~45-70% risk by age 70 Male: ~8% Ovarian» BRCA 1: ~40%» BRCA 2: ~15% Prostate ~14-19% Pancreas Stomach Others Accessed Bing 8/5/16. Free to modify, share, and use commercially. 24

26 BRCA genetic testing Testing Testing has changed several times through the years The test is not 100% sensitive or specific The test can return as: Positive Negative Known mutation in family member ( True negative ) Uninformative negative Variant of uncertain significance Variant of Uncertain Significance test result rate BRCA 1 and 2 test 2.1% Rate has decreased 84% in last decade 6 Gene testing 7.6% BRCA 1 and 2, PTEN, TP53, CDH1, STK gene testing 20-25% 25 gene testing 42% Approximate values Accessed 7/9/

27 Back to Our Clinical Case A 44 year old female has a strong family history of cancer Mother: Breast Dx 49 y/o M GM: Ovarian Dx 62 y/o M Uncle x 2: Prostate Dx 53 and 58 y/o BRCA testing done in 2001 reported to be negative. Her 45 y/o sister actually was very recently diagnosed with breast cancer Her sister s BRCA 1 testing is positive What are the considerations in this case? 26

28 Trends 27

29 Genetic Test Cost Trend on the Rise Genetic test trend is on the rise New and advanced tests being introduced New specialty laboratories, often times out of network Increasing incidence and prevalence of chronic degenerative diseases Increased consumer awareness of genetic testing Few health plans/insurers have an extensive genetic test management program Many tests are without CMS fees, a benchmark often used in provider negotiation Tests are billed under undefined CPT codes 28

30 Polling Question: What is the genetic testing annual trend? 50% 1. <5% 2. 5% to 9% 3. 10% to 14% 4. 15%+ 10% 17% 23%

31 What is the genetic testing annual trend? Hard data on current patterns of use of genetic testing and molecular diagnostics are difficult to come by. By analyzing proprietary claims and clinical information from UnitedHealthcare,.. We estimate that spending per member on molecular and genetic tests increased by about 14 percent a year on average between 2008 and Source: UnitedHealth Center for Health Reform & Modernization, Personalized Medicine: Personalized Medicine: Trends and prospects for the new science of genetic testing and molecular diagnostics; Working Paper 7 March

32 CY 2014 to CY 2015 Trend Source: CP Risk Solutions Proprietary Data; population size nearly 80,000,000 MMS. 31

33 CPT Coding 32

34 Molecular/Genetic CPT Codes: Pre-January 1, 2013 Molecular procedure stacking CPT codes Each procedural step of a test utilized a different CPT code to create a stack Molecular Isolation and Extraction Enzymatic Digestion Amplification Mutation scanning Mutation identification by sequencing Lysis of Cell 33

35 New Molecular CPT Codes Changes: Post-January, 2013 New AMA CPT codes for Molecular Pathology Tier 1 = analyte specific code n = ~119 codes ( ) Tier 2 = level of complexity code n = 9 codes, ~ 650 tests ( ) Unlisted molecular pathology procedure > 1000 tests 815XX - Multianalyte Assays with Algorithmic Analyses (MAAAs) n = 19 codes ( ) Unlisted multianalyte assay with algorithmic analysis 100 s of tests 34

36 CPT Codes Tier 1 BRCA1/2 only Tier 1 Code Effective Date Description /01/ /01/ /01/ /01/ /01/ /01/ /01/ /01/ /01/ /01/2016 BRCA1, BRCA2 (breast cancer 1 and 2) (e.g., hereditary breast and ovarian cancer) gene analysis; full sequence analysis and common duplication/deletion variants in BRCA1 (i.e., exon 13 del 3.835kb, exon 13 dup 6kb, exon del 26kb, exon 22 del 5 BRCA1, BRCA2 (breast cancer 1 and 2) (e.g., hereditary breast and ovarian cancer) gene analysis; 185delAG, 5385insC, 6174delT variants BRCA1, BRCA2 (breast cancer 1 and 2) (e.g., hereditary breast and ovarian cancer) gene analysis; uncommon duplication/deletion variants BRCA1 (breast cancer 1) (e.g., hereditary breast and ovarian cancer) gene analysis; full sequence analysis and common duplication/deletion variants (i.e., exon 13 del 3.835kb, exon 13 dup 6kb, exon del 26kb, exon 22 del 510bp, exon 8-9 del 7.1 BRCA1 (breast cancer 1) (e.g., hereditary breast and ovarian cancer) gene analysis; known familial variant BRCA2 (breast cancer 2) (e.g., hereditary breast and ovarian cancer) gene analysis; full sequence analysis BRCA2 (breast cancer 2) (e.g., hereditary breast and ovarian cancer) gene analysis; known familial variant BRCA1, BRCA2 (breast cancer 1 and 2) (eg, hereditary breast and ovarian cancer) gene analysis; full sequence analysis and full duplication/deletion analysis Hereditary breast cancer-related disorders (eg, hereditary breast cancer, hereditary ovarian cancer, hereditary endometrial cancer); genomic sequence analysis panel, must include sequencing of at least 14 genes, including ATM, BRCA1, BRCA2, BRIP1, CDH1, MLH1, MSH2, MSH6, NBN, PALB2, PTEN, RAD51C, STK11, and TP53 Hereditary breast cancer-related disorders (eg, hereditary breast cancer, hereditary ovarian cancer, hereditary endometrial cancer); duplication/deletion analysis panel, must include analyses for BRCA1, BRCA2, MLH1, MSH2, and STK11 35

37 CPT Codes Tier 2 Level of Complexity Tier 2 Code Description Molecular pathology procedure, Level 1 (e.g., identification of single germline variant [e.g., SNP] by techniques such as restriction enzyme digestion or melt curve analysis) Molecular pathology procedure, Level 2 (e.g., 2-10 SNPs, 1 methylated variant, or 1 somatic variant [typically using nonsequencing target variant analysis], or detection of a dynamic mutation disorder/triplet repeat) > 1000 different Molecular pathology procedure, Level 3 (e.g., >10 SNPs, 2-10 methylated variants, or 2-10 somatic variants [typically using non-sequencing target variant analysis], immunoglobulin and T-cell receptor gene rearrangements, duplication/deletion variants 1 exon) molecular tests can be Molecular pathology procedure, Level 4 (e.g., analysis of single exon by DNA sequence analysis, analysis of >10 amplicons using multiplex PCR in 2 or more independent reactions, mutation scanning or duplication/deletion variants of 2-5 exons) billed using Molecular pathology procedure, Level 5 (e.g., analysis of 2-5 exons by DNA sequence analysis, mutation scanning or duplication/deletion variants of 6-10 exons, or characterization of a dynamic mutation disorder/triplet repeat by Southern blot analysis) 1 of these 9 codes Molecular pathology procedure, Level 6 (e.g., analysis of 6-10 exons by DNA sequence analysis, mutation scanning or duplication/deletion variants of exons) Molecular pathology procedure, Level 7 (e.g., analysis of exons by DNA sequence analysis, mutation scanning or duplication/deletion variants of exons, cytogenomic array analysis for neoplasia) Molecular pathology procedure, Level 8 (e.g., analysis of exons by DNA sequence analysis, mutation scanning or duplication/deletion variants of >50 exons, sequence analysis of multiple genes on one platform) Molecular pathology procedure, Level 9 (e.g., analysis of >50 exons in a single gene by DNA sequence analysis) 36

38 BRCA1/BRCA2 Comprehensive Test: Coding Changes Over Time Pre-January 1, x x x x x 1 January 1, 2013 to December 31, x x 1 January 1, 2016 to?

39 Claim Analysis: Same Test, Different PAR Labs Avg Paid Lab #1 X X X X X X X X ~6k Lab #2 X X X >3k Lab #3 X X X X X X ~2.5k 38

40 Claim Analysis: Same Test, Same Lab Avg Paid Claim #1 X X X X X X X X X X X X X X X X X X X X ~11k Claim #2 X X X X X X ~8k Claim #3 X X X X X X ~5k Claim #4 X X X X X ~3.5k 39

41 Polling Question: What % of Genetic Testing CPT codes have no CMS Clinical Laboratory fee in 2016? 57% 1. 10% or less 2. 11% to 25% 3. 25% to 50% % 22% 15% 6%

42 CPT Codes without CMS fees 52% of Molecular and Genetic CPT codes have no CMS fee in 2016 Of the 222 codes, 115 codes do not have a CMS fee. 41

43 Test Growth 42

44 Unlisted CPT codes CPT Code: Description: Unlisted molecular pathology procedure 43

45 Unlisted CPT codes CPT Code: Description: Unlisted multianalyte assay with algorithmic analysis 44

46 Risk Management 45

47 Genetic Testing Ideally it would be simple Patient: Doctor: Report Relief L2_L3&FORM=R5IR46 Bing images obtained free to modify, share, and use commercially 8/2/

48 Genetic Testing The Process Patient: Doctor: Facility Counsellor Report Claims L2_L3&FORM=R5IR46 Bing images obtained free to modify, share, and use commercially 8/2/

49 Clinical Validity and Clinical Utility Clinical Validity The ability of a genetic test to predict a phenotype APC gene: Familial adenomatous polyposis APOE e4/e4: Alzheimer disease ~ 100% ~ 30% Clinical Utility The impact of the genetic test on clinical care Huntington BRCA Minimal Significant 48

50 Prior Authorization (PA) PA is not effective for ensuring quality or for appropriate expense allocation if testing is inexpensive or if it is being performed appropriately. However, if the wrong test is being done on the wrong patient at the wrong time and However, if the wrong test is being done on the wrong patient at the wrong time and place there place there is opportunity. is opportunity. 49

51 Prior Authorization Medical Necessity: Test is considered the standard of care AND Member with clinical features, or direct risk of inheriting the mutation (pre-symptomatic) AND Testing will change diagnosis and /or management AND Testing is not being performed primarily for the convenience of the patient, physician, or other health care provider AND The dx remains uncertain after Hx, PE, genetic counseling, and completion of conventional studies Test hasn t already been previously completed Proper Test at the Proper Place: Ensure eligibility of the person being tested Code review to ensure proper payment Check testing facilities network status 50

52 Medical Necessity----The right place? BRCA testing

53 Medical Necessity----Example BRCA testing Aetna considers genetic testing for BRCA medically necessary for individuals once per lifetime who meet the following criteria: A. Woman to be tested has a personal history of epithelial ovarian cancer OR B. Woman has hx. of breast cancer at age 45 or younger with or without a F.H. of cancer OR C. Woman has a hx. of breast cancer at age 50 or younger with a FH of breast cancer* OR D. Woman has a hx of triple negative cancer at age 60 or younger. Accessed *See the specific indications on this website 52

54 Medical Necessity----Example BRCA testing---continued E. Woman with breast cancer at any age with certain other FH characteristics* OR F. Woman with pancreatic adenocarcinoma or ovarian cancer with certain other FH characteristics* OR G. Woman with at least a 10% risk of a BRCA mutation based upon a valid quantitative risk assessment tool and genetic counseling. Accessed *See the specific indications on this website 53

55 Utilization of pretest counseling October 2015 study in JAMA Oncology 3874 BRCA-tested women completed a questionnaire (out of 11,159 consecutively tested, insured women) 5.3% tested positive 16.4% did not meet testing criteria 36.8% received pretesting genetic counseling The most common reported reason for no counseling was lack of clinician recommendation Armstrong, J. et al. JAMA Oncol. Published Online Oct 1,

56 Genetic Counseling - What? Genetic counseling is the process of helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease. This process integrates: Interpretation of family and medical histories to assess the chance of disease occurrence or recurrence. Education about inheritance, testing, management, prevention, resources and research. Counseling to promote informed choices and adaptation to the risk or condition. 55

57 Genetic Counseling When? Most critical when there is complexity around: Appropriate patient identification Patient without a personal cancer history is a member of a family where a BRCA mutation is likely, test affected family member first Correct test selection Patient and/or family history is suggestive of more than one hereditary cancer syndrome, single syndrome test vs. larger panel test Best test/lab selection Lab #1 hereditary cancer panel Lab #2 hereditary cancer panel Result Interpretation Variants of Uncertain Significance Negative for mutation but, personal and/or family history still indicates increased risk 56

58 BRCA1/2 Testing Criteria 57

59 3-Generation Pedigree 58

60 Risk Assessment and Counseling 59

61 CLINICAL CASE POLISH/GERMAN IRISH d. 72 d. 80 d. 71 d. 63 dx. 62 d. 59 d d. 53 dx. 49 d. 63 dx. 53, OVARIAN CANCER BREAST CANCER PROSTATE CANCER BRCA1/2 POSITIVE NEGATIVE (2016) (2001) BRCA1 POSITIVE (2016) 60

62 Genetic Counseling: Billing and Reimbursement CPT In 2007, CPT code was approved for genetic counseling services provided by Code non-physician CPT Description providers. CMS Fee (definition) - Medical genetics and genetic counseling services, each 30 minutes faceto-face with patient/family HOWEVER, Medical CMS/Medicare genetics does and not genetic yet recognize counseling genetic services, counselors each 30 as billable $47.26 non-physician minutes healthcare face-to-face providers. with patient/family Most Genetic Office Counseling consultations services with are new billed or established to health plans patients. with either: A Physician consult E&M is codes provided for the by physicians a physician time spent whose with opinion the patient, or advice and/or is Facility requested fees by another physician about a specific clinical problem or issue. Includes: 1) Comprehensive History 2) Results: Comprehensive Physical Exam 3) Medical Decision Making of Moderate Complexity Genetic Counselors are not considered in-network providers for most health plans Health plans paying more for Genetic Counseling services than they would if they reimbursed them directly SAME AS ABOVE EXCEPT: 3) Medical Decision Making of High Complexity $ $

63 Priority Health/InformedDNA Experience 33% reduction in total BRCA spending (not testing) when GC requirement put in place, replacing a check-box prior authorization process. 62

64 Health Plans REQUIRING Genetic Counseling Health Plan Start Date Hereditary Cancer Pre- Symptomatic Prenatal Pre- Implantation Carrier Cardiac Whole Exome CMA, Pediatric Priority Health (Michigan) 2011 X X X X X X CIGNA 09/16/13 HBOC LQTS 07/15/16 X X X X United Healthcare 01/01/16 HBOC 63

65 SUMMARY Molecular/Genetic testing is a recent development, extremely complex and is experiencing exponential economic growth Health plans need help Actuaries and genetic experts are a powerful team 64