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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



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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


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)


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



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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


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

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