DNA Day Illinois 2013 Webinar: Newborn Screening and Family Health History Tuesday, April 16, 2013
Objectives Recognize the importance & impact of newborn screening Describe the process of newborn screening Identify disorders being screened for and new disorders being added to newborn screening in Illinois Identify connection between family health history and newborn screening Recognize how disorders and health risks are inherited Outline benefits to gathering family health history Illustrate importance of family health history and newborn screening
Acknowledgments
Place of employment Poll What type of health center do you work in? a) Local public health department b) State public health department c) Hospital d) Federally Qualified Health Center e) Private Practice f) Other
Job position poll What is your job position? a) Nurse b) Doctor c) Genetic Counselor d) Social Worker e) Other health related position f) Other non health related position
Presenters Michelle Gilats Marie Vonesh
Newborn Screening
History and Impact Approximate No. of Newborns in IL Annually Screened Diagnosed 165,000 400
Introduction to Genetics Genes are like the body s blueprints Some mutations lead to different traits Other mutations alter function of protein and lead to disease
Newborn Screening Process What: A blood test performed by heel stick Screening also includes a hearing test and can include pulse oximetry When: 24-48 hours after birth Where: In hospital Why: To determine if a baby has a serious medical condition that needs early intervention
Screening in Illinois Screening differs from state to state IL currently screens for 29 core conditions IL is adding 7 Lyosomal Storage Disorders and Severe Combined Immunodeficiency Disorder to its newborn screening panel
Lyosomal Disorders Fabry Gaucher Krabbe MPS I MPS II Niemann-Pick Pompe
Fabry Disease NBS measures: alpha-galactosidase Symptoms/Signs Treatment Pain Gastrointestinal Issues Possible stroke Renal damage Cardiomyopathy Enzyme replacement therapy Medications to treat existing symptoms
Gaucher Disease NBS measures: β - glucosylceramidase Symptoms/Signs Treatment Type I Bone disease Anemia Enlarged spleen Lung disease Type II Neurological disease Enzyme replacement therapy Substrate reduction therapy Bone Marrow Transplant
Krabbe Disease NBS measures: galactocerebrosidase Symptoms/Signs Treatment Infantile Type Irritability Hypertonicity Progressive neurologic deterioration Late Onset Forms Weakness Vision Loss Intellectual regression Supportive care Stem cell transplant
Mucopolysaccharidosis Type I (MPS I) NBS measures: alpha-l-iduronidase Symptoms/Signs Treatment Severe Type Coarse facial features Enlarged liver and spleen Skeletal abnormalities Hearing loss Corneal clouding Intellectual disability Attenuated Type Severity and rate of progression varies Enzyme replacement therapy Stem cell transplant
Mucopolysaccharidosis Type II (MPS II) NBS measures: Iduronate-2-sulfatase Symptoms/Signs Treatment Enlarged liver and spleen Skeletal abnormalities Severe Type Progressive cognitive deterioration Progressive airway disease Cardiac disease Chronic diarrhea Attenuated Type No CNS involvement Enzyme replacement therapy
Niemann-Pick Disease NBS measures: Acid sphingomyelinase Symptoms/Signs Treatment Type A Enlarged liver and spleen Cherry red spot in retina Recurrent respiratory infections Neurological deterioration Type B No neurological involvement Enlarged liver and spleen Pulmonary function deterioration Supportive care
Symptoms/Signs Infantile Onset Hypotonia Muscle weakness Cardiomegaly & hypertrophic cardiomyopathy Feeding difficulties Failure to thrive Respiratory distress Hearing loss Late Onset Proximal muscle weakness Respiratory insufficiency without cardiac involvement Pompe Disease NBS measures: alpha-glucosidase Treatment Enzyme replacement therapy Physical therapy Respiratory support
SCID and CCHD Severe Combined Immunodeficiency (SCID) Known as Bubble Boy disease Inheritance: Autosomal recessive or X-linked Group of disorders that lead to absence of T- lymphocytes Symptoms: Recurrent infections, death within 1 year if not treated Treatment: Stem cell transplant (within first 3 months of life), bone marrow transplant, immunoglobulin injections, prophylactic antibiotics Critical Congenital Heart Disease (CCHD) ~15% due to genetic causes Group of defects that typically require treatment within first year of life Symptoms: Cyanosis, breathing difficulty, poor weight gain Treatment: Possible surgery, medications, catheterization NBS measure: Pulse oximetry (not a blood test) NBS measure: Lymphocytes
Limitations Additional testing needed Importance of genetic counseling Consumer education important
Family Health History
Types of inheritance Autosomal Recessive
Types of inheritance Autosomal Dominant
Types of inheritance X-Linked
Living with Fabry Disease
Discovery Gynecologist Primary Doctor Nephrologist Biopsy Screening DNA Testing December 2002 January May2003 June 2003 June 2003
Symptoms Sweating Heat & Cold Intolerance Skin Issues Eye Issues High Fevers Stomach Issues Hearing Loss Kidney Problems Heart Atrial Fibrillation
Treatment October 2003 Hospitals Centers Home
Family Health History Grandparents Male Female Not Affected by Fabry Disease John Yanoula Affected by Fabry Disease Uncles Deceased Parents Gus Sam Peggy Chris George Bill Harry Siblings Martha Joanne Marie Me
Family Health History Siblings Martha Joanne Me Jessica Rebecca Brandon Ryan Ian Sophia Ella Quinn Gavin
Effects on Family
Newborn Screening
Questions
Resources Illinois Department of Public Health Genetics Program: http://www.idph.state.il.us/healthwellness/genetics.htm Genetic Education for Illinois: http://easylearngenetics.net/ Newborn Screening in Illinois: http://www.babysfirsttest.org/newborn-screening/states/illinois Newborn Screening for Practitioners: http://www.savebabies.org/practitioners_disorders.html Family Health History: http://geneticalliance.org/fhh http://www.hhs.gov/familyhistory/ National Fabry Disease Foundation http://www.fabrydisease.org/
References American College of Medical Genetics and Genomics. (2012). Newborn screening ACT sheets and confirmatory algorithms. Retrieved October 11, 2012 from http://www. acmg.net/am/template.cfm?section=nbs_act_sheets_and_algorithms_table& Template=/CM/HTMLDisplay.cfm&ContentID=5072 Baby s First Test. (2012). Homepage. Retrieved January 24, 2013 from http://www.babysfirst test.org/ Burke, S. & Kirk, M. (2006). Genetics education in the nursing profession: Literature review. Journal of Advanced Nursing, 54(2), 228-237. Davis, T.C., Humiston, S.G., Arnold, C.L, Bocchini, J.A., Bass, P.F., Kennen, E.M.Lloyd- Puryear, M. (2006). Recommendations for effective newborn screening communication: Results of focus groups with parents, providers, and experts. Pediatrics, 117(5), S326-340. Genetic Alliance. (2009). Understanding genetics: A New York, Mid-Atlantic guide for patients and health professionals. Retrieved October 11, 2012 from http://www. resourcerepository.org/documents/1247/understandinggenetics:aneyyork,mid-atlantic guideforpatientsandhealthprofessionals Kemper, A.R., Fant, K.E. & Clark, S.J. (2005). Informing parents about newborn screening. Public Health Nursing, 22(4), 332-338. Mehta, A. & Hughes, D. (2011). Fabry Disease. Retrieved October 29, 2012 from http://www. ncbi.nlm.nih.gov/books/nbk1292/ McCabe, L.L., Therrell, B.L., & McCabe, E.R. (2002). Newborn screening: Rationale for a comprehensive, fully integrated public health system. Molecular Genetics and Metabolism, 77, 267-273. National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention. (2012). Pulse oximetry screening for critical congenital heart defects. Retrieved January 17, 2013 from http://www.cdc.gov/features/congenitalheartdefects/
References National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention. (2013). Newborn screening. Retrieved January 24, 2012 from http:// www.cdc.gov/ncbddd/pediatricgenetics/newborn_screening.html National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention. (2013). Screening for critical congenital heart defects. Retrieved January 24, 2013 from http://www.cdc.gov/ncbddd/pediatricgenetics/cchdscreening.html National Fabry Disease Foundation. (2012). Fabry disease symptoms overview. Retrieved March 12, 2013, from http://www.fabrydisease.org.about-fabry-disease/fabry-disease symptoms-overview National Institute of Neurological Disorders and Stroke, National Institutes of Health. (2011). NINDS Gaucher Disease information page. Retrieved October 29, 2012 from http:// www.ninds.nih.gov/disorders/gauchers/gauchers.htm National Institute of Neurological Disorders and Stroke, National Institutes of Health. (2011). NINDS Krabbe Disease information page. Retrieved October 29, 2012 from http:// www.ninds.nih.gov/disorders/krabbe/krabbe.htm National Society of Genetic Counselors. (n.d.). Your family history. Retrieved January 24, 2013 from http://www.nsgc.org/about/familyhistorytool/tabid/226/default.aspx U.S. Department of Health and Human Services. (n.d.). My family health portrait: A tool from the Surgeon General. Retrieved January 24, 2013 from http://familyhistory.hhs.gov/ fhh-web/popup/gethelp/helpdetailslearnmore.action#users U.S. National Library of Medicine, National Institutes of Health. (2013). Inheriting genetic conditions: Inheritance patterns and understanding risk. Retrieved October 11, 2011 from http://ghr.nlm.nih.gov/handbook/inheritance?show=all