AMCHP 2005 Conference Newborn Screening in Maryland The Maryland Program Informed Consent Informational Materials Linkage to Services Challenges of Working with Commercial Labs

AMCHP 2005 Conference The goal of newborn screening is to eliminate, through early identification and treatment, “screenable” disorders as a cause of morbidity and mortality and to improve the quality of life for affected individuals.

AMCHP 2005 Conference Newborn screening is not just a laboratory service; it is a system of care including, not only testing, but also follow up, definitive diagnosis, treatment, long term management, education and evaluation----

AMCHP 2005 Conference

The goal of newborn screening follow up is to ensure that each affected infant receives the full benefit of early detection and optimal long term treatment and management.

AMCHP 2005 Conference Follow Up short term follow up- assure that a definitive diagnostic work-up is done, that the infant really has the disorder and that the infant is started on appropriate treatment long term follow up- assure that the infant continues to receive appropriate treatment and monitors the long term outcome

AMCHP 2005 Conference Long-term tracking of affected children provides the data for outcome evaluation and the clinical utility of screening.

AMCHP 2005 Conference Why is Follow up Important? assures the benefit to the infant/ family collects data needed for program evaluation holds all program components together

AMCHP 2005 Conference Components of a Follow Up System trained personnel database administrative, secretarial and computer support medical direction protocols cooperative birthing facilities informed families PCP –medical home specialty consultants and providers screening and diagnostic laboratories effective communication

AMCHP 2005 Conference The Role of the State in Newborn Screening Assure that all infants are offered screening, without regard to ability to pay Assure that all infants with results that are not normal are followed up Assure that all affected infants receive appropriate treatment in the necessary time frame, without regard to ability to pay Assure that all affected infants receive appropriate long term care

AMCHP 2005 Conference History of Newborn Screening in Maryland Both health professionals and families advocate screening 1963 lab begins to perfect Guthrie technique 1965 mandatory PKU screening begins 1973 statute for Commission on Hereditary Disorders Commission decides all genetic testing (including newborn screening) will be voluntary and require informed consent 1973 MSUD, homocystinuria and tyrosinemia added 1975 new regulations require informed consent 1978 hypothyriodism added

AMCHP 2005 Conference History of Newborn Screening in Maryland 1981 galactosemia added, method changed biotinidase deficiency added 1985 sickle cell disease added 2000 hearing screening added 2001 CAH added 2003 MS.MS added 2003 commercial lab licensed 2005 cystic fibrosis to be added

AMCHP 2005 Conference Unusual Features of the Maryland Newborn Screening Program Short term follow up unit established at the outset Long term follow up unit, including nutritional management, established at the outset Nutritional management provided, free of charge, through the health department from the outset Patients linked to services – NBS is part of Genetics/CSHCN unit One of the earliest advisory commissions- consumer dominated, includes medical experts and legislators Voluntary screening with informed consent since 1975 Routine second specimen Metabolic Centers receive State subsidies since 1981 Hematology/ endocrine follow up also subsidized

AMCHP 2005 Conference

Adding Disorders to the Maryland Panel Classical criteria for selecting disorders to screen for: Relatively “high” incidence Treatment available Good screening test Low cost /cost effective (Genetic Screening: Procedural Guidance and Recommendations. National Academy of Sciences, 1975)

AMCHP 2005 Conference A “ good ” screening test is : accurate reproducible inexpensive non-invasive uses an indicator, which is sensitive and specific a positive test has a high positive predictive value.

AMCHP 2005 Conference MS.MS and the advantages of identifying a whole cohort of affected children Clinical spectrum- classical, variants Epidemiology- birth prevalence, gene frequency Genetics- inheritance pattern, mechanisms, mutational analysis Natural history Pathophysiology Development and evaluation of treatment Genetic counseling and PND Refinement of diagnosis and screening One test identifies multiple disorders !

AMCHP 2005 Conference Adding MS.MS to the Maryland Program Strong advocacy by parent groups Parents involved legislators Metabolic geneticists excited about opportunities for treatment and research Discussion lab focused Advisory Council accedes to requests for speed of implementation Little attention paid to adequacy of resources for public and professional education, follow up protocols and manpower, database, funding for increased workload at metabolic centers

AMCHP 2005 Conference Informed Consent for Newborn Screening in Maryland Simple good will informed consent Most effective when explained by health professional Analogous to other medical testing in babies and children Informational booklet/ consent form is a legal document and must be approved by the AG Very long detailed informational booklet Booklets provided by the State to childbirth education groups, hospitals (floors and pre-admission packets), birthing centers, OB, pediatric and family practice offices

AMCHP 2005 Conference Newborn Screening is a population based program Populations are very diverse: demographically, culturally, educationally Not all parents want their baby screened (5 to 10 families / 70,000 / year) Some parents, approximately one third, don’t want to know about disorders unless there is effective treatment* *Rebecca Kerns, MS, Master’s thesis

AMCHP 2005 Conference Informed Consent for MS.MS How can you explain a large number (>30) of complex metabolic disorders without common names and with varying degrees of “treatability” to the general population? You can’t! Professional education is also a major issue

AMCHP 2005 Conference Informational Materials for Obtaining Informed Consent in Maryland Focus groups in 2004, in collaboration with Dr Terry Davis at LSU, sponsored by MCHB Genetics Branch Most parents don’t feel the need for very detailed information Most parents don’t read the long brochure However, if the baby has a positive test result, parents find almost all of their questions are answered in the long booklet How do we get the information to parents,especially those with positive results, in the right time frame? Both booklets at once in the hospital? Many parents had no idea the State was involved in newborn screening

AMCHP 2005 Conference Challenges of Working with a Commercial NBS Lab In Maryland, the commercial lab competes with the State public health lab on a hospital by hospital basis Many problems stem from having more than one lab Families who can’t pay Volume of samples needed for QA/QC Financial viability of the State lab Comparability of test results Initial and routine second samples going to different labs Use of lab slip to collect other data- infant hearing screening or hepatitis B immunizations Database integration without any new resources HIPAA concerns of commercial lab re reporting to the State follow up unit Differing interpretations of what should be reported

AMCHP 2005 Conference The Role of the State in Newborn Screening Assure that all infants are offered screening, without regard to ability to pay Assure that all infants with results that are not normal are followed up Assure that all affected infants receive appropriate treatment in the necessary time frame, without regard to ability to pay Assure that all affected infants receive appropriate long term care Evaluate program performance