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INGC AEC 2017 Carrie Lango 10/30/2017
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Public Health Initiatives in the State of Michigan: Tips for Getting Involved in Indiana
November 10, 2017
Carrie Langbo, MS, CGC, BioTrust CoordinatorMichigan Department of Health and Human Services (MDHHS)
[email protected] or 517‐335‐6497
DISCLOSURES
• I have no conflicts of interest/disclosures.
TODAY’S OBJECTIVES
• Summarize role of genetic counselors in MDHHS programs• Examine opportunities for incorporating genetic counselors
into public health initiatives
Provide real‐life actionable strategies
WHAT IS PUBLIC HEALTH GENOMICS?
• Bellagio Statement, 2006
• A multidisciplinary field concerned with the effective and responsible translation of genome‐based knowledge and technologies to improve population health http://www.nature.com/gim/journal/v8/n7/full/gim200678a.html
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GENOMICS & PUBLIC HEALTH IN THE 21STCENTURY
“Genomics will be to the 21st century what infectious disease was to the 20th century…Genomics should be considered in every facet of public health: infectious disease, chronic disease, occupational health, environmental health, in addition to maternal and child health”
Gerard et al. Journal Law, Medicine , Ethics 2002; vol 30(suppl):173‐176
PUBLIC HEALTH GENOMIC’S CHAMPION
Janice Bach, MS, CGCMDHHS State Genetics Coordinator
>30 years of public health genomics service
Advocates for Integration of Genomics
Advocates for Hiring Genetic Counselors
Appreciates Value of Genetic Counselor Training
TIP #1: IDENTIFY PUBLIC HEALTH CHAMPION
Start emailing and calling!
Explore ways to integrate genomics into public health
programs.
MICHIGAN’S PLAN OF ACTION
www.michigan.gov/genomics
Improved health outcomes and an enhanced quality of life for the people of
Michigan through appropriate use of genetic information, technology and
services
First state genetics plan in US to identify need for cancer genetics in public health.
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TIP #2: SET SHORT & LONG TERM GOALS
Initiate a plan of action with your state champion to
incorporate genomics into public health.
Start small- big asks require time & money.
Increase your presence.Demonstrate your expertise.
Convey willingness to collaborate.
MI PUBLIC HEALTH GENOMICS PROGRAM
• The Genomics and Genetic Disorders Section provides assessment, policy development, and assurance related to newborn screening, birth defects, genetic disorders, and the use of genomics in public health programs.
– Currently 4 board certified genetic counselors, seeking 5th• State Genetics Coordinator; Genomics & Genetic Disorders Section Manager• BioTrust Coordinator• NBS Genetics Specialist• Birth Defects Education and Outreach Program Coordinator• Genomics Coordinator (open position)
GENOMICS COORDINATOR
Cancer Genomics Program Sudden Cardiac Death of the Young
Hereditary Breast and Ovarian Cancer and Lynch syndrome
Promoting system change through education, surveillance & policy to advance cancer genomics best practices in Michigan
MICHIGAN CANCER GENETICS PROGRAM
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UTILIZE STATE REGISTRY DATA• MI CA Surveillance Program
– Registry established by law– Occurrence; type, extent,
location; type of initial treatment
• Utilize registry data for surveillance and action– Review for HBOC/Lynch syndrome– Assess barriers/facilitators of
young cancer survivors’ knowledge/attitudes about family history, genetic counseling & testing
– Provide educational materials to increase screening and genetic counseling for cancer survivors and at‐risk relatives
– Partner to disseminate data and reinforce messages
TIP #3: PARTNER, SURVEILLANCE, DISSEMINATE
SUDDEN CARDIAC DEATH OF THE YOUNG
• Surveillance and Prevention 2003‐2017– Aim: Prevention of SCDY (1‐39 years
of age) in Michigan through early detection of individuals at risk, treatment of those with predisposing conditions, & intervention for victim experiencing sudden cardiac arrest
DATA TO ACTION, 2008‐2017
• Based on expert mortality review, 21 action steps identified to prevent SCDY
• 5 major themes:— Pre‐participation sports physicals
and screenings— Provider education and public
awareness of SCDY risk factors— Emergency response protocols— Public awareness of cardiac
symptoms and CPR/AED training— Medical examiner protocols
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MICHIGAN SCDY EXPERT MORTALITY REVIEW PANEL
• Confirm cause of death or suggest alternative cause
• Describe factors that may have contributed to death
• Identify possible risk to family members
• Suggest recommendations for prevention of future deaths
Journal of Community Health. April 27, 2010.
Michigan Alliance for Prevention of Sudden Cardiac Death of the Young (MAP‐SCDY) • Mission: The MAP‐SCDY is a statewide collaborative network
that provides leadership, education, and resources to help communities prevent sudden cardiac death of the young
• Created in 2012 and facilitated by MDHHS Genomics• Current Activities
― Increase awareness of SCDY― Promote AHA ‘Chain of Survival’― Create and maintain website― Assist members in SCDY prevention activities― Promote MI HEARTSafe Schools
268 schools awarded in 2014‐2016
https://migrc.org/Library/HeartSafe.html
TIP #4: PARTNER, SURVEILLANCE, DISSEMINATE
https://www.nhlbi.nih.gov/news/spotlight/fact‐sheet/frequently‐asked‐questions‐about‐sudden‐death‐young‐case‐registry Thank you to Heather MacLeod, MS, CGC for sharing this information
NEWBORN SCREENING (NBS) PROGRAM
NBS Genetics Specialist
BioTrust Coordinator
Birth Defects Education & Outreach Program Coordinator
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From 1 to >50 Disorders• Amino Acid Disorders• Fatty Acid Oxidation Disorders• Organic Acid Disorders• Endocrine Disorders• Hemoglobinopathies• Biotinidase deficiency, Galactosemia,
SCID, Pompe & MPS 1• Critical Congenital Heart Defects• Hearing Loss
NBS PROGRAM
Coming…. X‐ALD
NBS Screening Genetic Specialist, Birth Defects Education and Outreach Program Coordinator, BioTrust Coordinator
• Monitor readiness for newborn screening– National & State Public Health Advisory
Committees– Other States’ NBS Programs– Grassroots advocacy
• Respond to Inquiries/Requests– Policy makers and family advocates
NBS PROGRAM EXPANSION
www.news.recombine.com
Historical and continued role for genetic counselors in NBS expansion!
NBS Screening Genetic Specialist, Birth Defects Education and Outreach Program Coordinator, BioTrust Coordinator
• Research natural history• Understand assay development
– Options, FDA approval, pilot testing• Convene advisory boards• Develop testing and follow‐up
algorithms• Develop patient/provider
educational material• Provide grand rounds• Provide clinical expertise
www.news.recombine.com
Genetic counselors!!
NBS PROGRAM EXPANSION
Newborn Sequencing
• Targeted sequencing?• Whole genome/exome sequencing?
– Variants of unknown clinical significance– Incidental findings– Data storage– Re‐contact– Consent
• Bedside screening?
www.genome.gov
NBS PROGRAM EXPANSIONWHAT’S AHEAD IN THE GENOMIC ERA
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•Hospitals•Public Health Programs
Vital Records and Health Statistics (VRHS): •Births•Deaths
•Newborn Screening (heart and hearing)•Children’s Special Health Care Services (Title V)•Women, Infants and Children (WIC)•Early Intervention (Part C)
•CDC, NCBDDD•March of Dimes (MOD), Family‐to‐Family Health Information Center (F2FHIC)
•National Birth Defects Prevention Network (NBDPN)
FAMILIAR PARTNERSBirth Defects Education and Outreach Program coordinator
TIP #5: USE FAMILIAR PARTNERS TO EXPLORE PUBLIC HEALTH COLLABORATIONS
• Coordinate Michigan Birth Defects Registry (MBDR) – Collaboration with Newborn Screening (NBS) team to:
• Identify congenital heart defect diagnoses reportable to MBDR and diagnostic ICD 10 –CM codes assigned
• Identify cases reported to MBDR and compare to NBS CCHD data to see if cases were screened, screened appropriately, detected by screening
BRIDGING MDHHS PROGRAMS: NBS AND MBDRBirth Defects Education and Outreach Program coordinator
Genetic expertise aids data analysis!
UNEXPECTED OPPORTUNITIESBirth Defects Education and Outreach Program coordinator
MDHHS ‘Eat Safe Fish’ Program • Collaboration developed health
professional training for women of childbearing age
Zika Virus Outbreak, 2016‐17• Develop coordinated public health
response– MDHHS communicable disease &
maternal and child health staff– Monitor outbreak; scientific
knowledge of the risks and outcomes; identify target audiences; communicate/disseminate knowledge and resources (meetings, posters, fact sheets, provider guidelines)
Market yourselves as the experts prepared to deal with responses to teratogens!
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NBS ExpansionUnexpected Turns (Zika virus)
More to come…
Expertise and genetic counselor training allows
diverse professional roles and expanding duties in public health.
NBS PROGRAM ROLES TIP #6: USE CLINICAL ROLE TO INTEGRATE INTO PUBLIC HEALTH
www.sequenom.com
NBS Biobanking Initiatives
• ~1/3 NBS programs store blood spots long‐term– Diverse policies on use
• Virtual Repository of Dried Blood Spots– CA, IA, MI, NY
MICHIGAN BIOTRUST FOR HEALTH (BIOTRUST)
• June 2009– Optimally preserve residual NBS blood spots– Promote use in medical & public health
research– Ease and improve process for parental decision
making– Increase community awareness and education
• Community Values Advisory Board• Scientific Advisory Board• MDHHS Institutional Review Board
MICHIGAN BIOTRUST FOR HEALTH (BIOTRUST)
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• Research Using Blood Spots– Multi‐generational– DNA methylation, SNP
analysis, sequencing candidate genes
– Searching for etiologies of cancer, birth defects, chronic disease
– Environmental studies– Improve NBS
Whole genome/exome sequencing requires study specific consent.
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2010 2011 2012 2013 2014 2015 2016 2017
MICHIGAN BIOTRUST FOR HEALTH (BIOTRUST)
Genetic Overlap Between Anomalies and Cancer in Kids (GOBACK Study)
• One of strongest risk factors for childhood cancer is being born with a birth defect– Down syndrome and leukemia– Beckwith‐Wiedemann and Wilms tumor
• Increased risk with major & minor malformations
Aim: Identify novel cancer predisposition syndromes by determining associations between birth defects and
childhood cancer
RESEARCH USE OF NBS BLOOD SPOTSBAYLOR COLLEGE OF MEDICINE (2015)
• Need large population based cohort with sufficient number children with birth defects to estimate cancer risk
• Using Michigan’s Birth Defects & Cancer Registries– MDHHS identifies eligible families– MDHHS recruitment– Baylor consent– MDHHS/MNB release of data and blood spots
Genetic Overlap Between Anomalies and Cancer in Kids (GOBACK Study)
RESEARCH USE OF NBS BLOOD SPOTSBAYLOR COLLEGE OF MEDICINE (2015)
Molecular Genetics of Acute Lymphoblastic Leukemia (ALL) in Patients with Down syndrome (DS)
• Children with DS 10‐20 fold risk of leukemia– Clear genetic basis, but exact gene(s) not known
• Discovery phase ongoing in cohort enrolled through Pediatric Oncology Group, St. Jude Children’s Research Hospital Children’s Oncology Group– GWAS study: seek markers for DS/ALL– 395 cases (DS and ALL) compared to 500 controls
(DS and CHD)– Using MI Birth Defects and Cancer Registries
• Identify DS and ALL cases– Using MI blood spots to validate GWAS findings NHS National Genetics and Genomics Education Centre
www.geneticseducation.nhs.uk
RESEARCH USE OF NBS BLOOD SPOTSBAYLOR COLLEGE OF MEDICINE (2015)
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TIP #7: USE GENETIC EXPERTISE, COLLABORATE ON BLOOD SPOT RESEARCH
Michigan Association of Genetic Counselors www.magcinc.org
Informed Consent
• <5 States Collecting Consent– MI (1st to implement),
TX, IN• MI, 2nd quarter 2017
– 62% consented– 24% declined– 14% incomplete/not
returned
MICHIGAN BIOTRUST FOR HEALTH (BIOTRUST)
TIP #8: GENETIC COUNSELORS POISED TO FILL UNIQUE AND GROWING ROLE
GENERAL SUGGESTION: REACH OUT TO HEALTH AND HOSPITAL ASSOCIATION
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GENERAL SUGGESTION: REACH OUT TO ADVOCACY GROUPS
• American Cancer Society• Cystic Fibrosis Foundation• MI Developmental
Disabilities Council• Michigan Environmental
Council• Michigan Minority Health
Council
GENERAL SUGGESTION: COLLABORATE WITH EVERYONE!
• Collaborate with each other & others– Initially, no money or time– Find Champions within network– Form workgroup
Unlikely partnerships can lead to great things!
THANK YOU!
Questions?
www.michigan.gov/newbornscereningwww.michigan.gov/[email protected]
517‐335‐6497