6/24/2019 CONSUMER CONSUMER CONSUMER CONSUMER- - - -DIRECTED GENETIC TESTING DIRECTED GENETIC TESTING DIRECTED GENETIC TESTING DIRECTED GENETIC TESTING – – – – WHAT WHAT IT MEANS FOR MY PATIENT AND MY PRACTICE WHAT WHAT IT MEANS FOR MY PATIENT AND MY PRACTICE IT MEANS FOR MY PATIENT AND MY PRACTICE IT MEANS FOR MY PATIENT AND MY PRACTICE Jessica Baker, MSc, CGC Diane Salema, MSc, (C)CGC Disclosures Disclosures Disclosures Disclosures Genetic counsellors employed by PCRM 2 www.pacificfertility.ca 1
6/24/2019 Objectives Objectives Objectives Objectives 1 Understand the rise of consumer-directed genetic testing What should you be aware of with direct-to-consumer 2 (DTC) genetic testing? Limitations of negative results • Raw data analysis and false positives • Family secrets • Carrier screening and private pay testing 3 Resources for you and your patients 4 3 www.pacificfertility.ca Private Pay Testing: What’s driving the market? Private Pay Testing: What’s driving the market? Private Pay Testing: What’s driving the market? Private Pay Testing: What’s driving the market? Number of companies offering genetic tests Cost Barriers to access genetic Consumer awareness testing Shift towards Turn around time individualized medicine 4 2
6/24/2019 Current Model Gaps Current Model Gaps Current Model Gaps Current Model Gaps 5 Direct Direct Direct Direct- -To - - To To To- - - -Consumer (DTC) genetic testing Consumer (DTC) genetic testing Consumer (DTC) genetic testing Consumer (DTC) genetic testing 6 www.pacificfertility.ca 3
6/24/2019 https://vitals.lifehacker.com/what-you-should-know-before-you-gift-someone-a-dna-test-1820774515 7 www.pacificfertility.ca https://twitter.com/JenniferRaff/status/936209825364692992 8 www.pacificfertility.ca 4
6/24/2019 DTC Example: 23andMe DTC Example: 23andMe DTC Example: 23andMe DTC Example: 23andMe Modified from https://www.23andme.com/en-ca/?fsp=true 9 www.pacificfertility.ca 23andMe Health Predisposition Panel 23andMe Health Predisposition Panel 23andMe Health Predisposition Panel 23andMe Health Predisposition Panel Modified from https://www.23andme.com/en-ca/dna-health-ancestry/?fsp=true 10 www.pacificfertility.ca 5
6/24/2019 BRCA1/2 BRCA1/2 BRCA1/2 BRCA1/2 https://www.23andme.com/en-ca/brca/ 11 www.pacificfertility.ca BRCA1/2 BRCA1/2 BRCA1/2 BRCA1/2 https://www.23andme.com/en-ca/brca/ 12 www.pacificfertility.ca 6
6/24/2019 Direct To Consumer Direct To Consumer - Direct To Consumer Direct To Consumer - Raw Sequencing Data - - Raw Sequencing Data Raw Sequencing Data Raw Sequencing Data 23andMe and other DTC genetic testing companies provide consumers with files of their raw genetic data. Up to 62% of consumers use third-party applications to interpret the raw data and provide health information not included in companies’ reports. 1 A recent study suggests that 40% of genetic variations within DTC raw data sent for clinical confirmation are false positives. 2 Common third party site: Promethease 1. Wang C, Cahill TJ, Parlato A2, Wertz B, Zhong Q, Cunningham TN, Cummings JJ. Consumer use and response to online third-party raw DNA interpretation services. Mol Genet Genomic Med. 2018;6:35–43. 2. Tandy-Connor, S, Guiltinan, J, Krempely K et al. False-positive results released by direct-to-consumer genetic tests highlight the importance of clinical confirmation testing for appropriate patient care. Genet Med 2018;1–7. 13 www.pacificfertility.ca A promethease report from 23andMe raw data said he had a pathogenic PSEN1 mutation The PSEN1 mutation is associated with an early-onset form of Alzheimer’s, and it is often described as “100 percent penetrant” Raw data used from Ancestry’s test did not He eventually persuaded his doctor to order a identify the PSEN1 variant clinical test of the PSEN1 gene. It was negative. https://www.nytimes.com/2018/09/15/opinion/sunday/23andme-ancestry-alzheimers-genetic-testing.html 14 www.pacificfertility.ca 7
6/24/2019 Modified from https://www.23andme.com/en-ca/?fsp=true 15 www.pacificfertility.ca Family Secrets Family Secrets Family Secrets Family Secrets https://www.vox.com/2014/9/9/5975653/with-genetic-testing-i-gave-my-parents-the-gift-of-divorce-23andme 16 www.pacificfertility.ca 8
6/24/2019 Family Secrets Family Secrets Family Secrets Family Secrets Non-paternity Adoption Anonymous sperm/egg donor Incest Infidelity Resource: Watershed DNA https://www.watersheddna.com/ 17 www.pacificfertility.ca Modified from https://www.23andme.com/en-ca/?fsp=true 18 www.pacificfertility.ca 9
6/24/2019 Modified from https://www.23andme.com/en-ca/?fsp=true 19 www.pacificfertility.ca Obligatory Genetics Review Obligatory Genetics Review Obligatory Genetics Review Obligatory Genetics Review 20 www.pacificfertility.ca 10
6/24/2019 46 chromosomes 46 chromosomes 46 chromosomes 46 chromosomes Gene 21 www.pacificfertility.ca Gene mutations Gene mutations Gene mutations Gene mutations Source: https://www.pinclipart.com/maxpin/wRimhh/ 22 www.pacificfertility.ca 11
6/24/2019 Autosomal Recessive Inheritance Autosomal Recessive Inheritance Autosomal Recessive Inheritance Autosomal Recessive Inheritance 23 www.pacificfertility.ca Autosomal Recessive Autosomal Recessive I Autosomal Recessive Autosomal Recessive I I Inheritance nheritance nheritance nheritance 24 www.pacificfertility.ca 12
6/24/2019 This is normal This is normal This is normal This is normal Most people carry at least a few recessive mutations 25 www.pacificfertility.ca SOGC SOGC SOGC SOGC- -CCMG Opinion - - CCMG Opinion CCMG Opinion CCMG Opinion 26 www.pacificfertility.ca 13
6/24/2019 SOGC SOGC- -CCMG Opinion CCMG Opinion SOGC SOGC - - CCMG Opinion CCMG Opinion 1. A primary discussion about the value and risk of reproductive carrier screening should be offered to all women/families considering a pregnancy ( pre-conception ) and to all pregnant women at their first prenatal visit, regardless of gestational age at the time of presentation. (III-A) (GRADE low/moderate) 27 www.pacificfertility.ca SOGC SOGC- SOGC SOGC -CCMG Opinion - - CCMG Opinion CCMG Opinion CCMG Opinion SOGC-CCMG: Direct-to-consumer or self-pay physician ordered carrier testing Patients should be made aware prior to testing that access to formal genetic counselling may be limited As well, additional confirmatory testing may be required but access may be limited by local resources or availability of the test in accredited laboratories. Ideally, individuals or couples who have been identified to be “at risk” for the transmission of a clinically significant genetic condition to their offspring by their primary care giver should be referred in the pre-conception period to a reproductive medical genetic provider for education and discussion of the implications for the couple and their offspring. (III-A) (GRADE moderate/moderate) 28 www.pacificfertility.ca 14
6/24/2019 Example Example – – Cystic Fibrosis Cystic Fibrosis Example Example – – Cystic Fibrosis Cystic Fibrosis Clinical Lab Expanded Carrier 23andMe Screen (Invitae) Testing 29 variants 130 variants Full gene sequencing (+del/dup) All ethnicities: 99% Detection Ashkenazi Jewish: 95% N. European: 95% Rate European: 89% Hispanic/Latino: 73% African American: 65% Asian: 55% 29 www.pacificfertility.ca Cystic Fibrosis Cystic Fibrosis Cystic Fibrosis Cystic Fibrosis - - - - 23andMe report 23andMe report 23andMe report 23andMe report 30 www.pacificfertility.ca 15
6/24/2019 Cystic Fibrosis Cystic Fibrosis – – Invitae Invitae report report Cystic Fibrosis Cystic Fibrosis – – Invitae Invitae report report 31 www.pacificfertility.ca 23andMe: AR 23andMe: AR- 23andMe: AR 23andMe: AR -PKD - - PKD PKD PKD Autosomal recessive Polycystic Kidney Disease European Detection rate = 25% 1 in 70 1 in 93 Middle Eastern and Turkish Detection rate = <1% 1 in 70 1 in 70 32 www.pacificfertility.ca 16
6/24/2019 Expanded Panels Expanded Panels Expanded Panels Expanded Panels 33 www.pacificfertility.ca Results Results Results Results 34 www.pacificfertility.ca 17
6/24/2019 Expanded carrier screen Expanded carrier screen stats stats Expanded carrier screen Expanded carrier screen stats stats 2 out of 3 people are identified as a carrier of at least one condition 1 ~2% (1/50) of couples are identified as both being carriers of the same condition 1 1. Fulgent Genetics internal data 35 www.pacificfertility.ca Options Options Options Options PGT-M Donor sperm or egg Prenatal diagnosis Nothing 36 www.pacificfertility.ca 18
Recommend
More recommend
