FY 2018 & FY 2019 NBS Application for Funding Genetic Metabolic Disorders The Indiana State Department of Health (ISDH) Maternal and Child Health’s (MCH) Genomics and Newborn Screening Program makes funds available for specific programs using this Grant Application Procedure (GAP). This GAP has been developed to support care services for Genetic Metabolic Disorders in order to reduce infant morbidity and mortality within the State of Indiana. APPLICATIONS MUST BE RECEIVED BY 4:00PM ON FRIDAY, AUGUST 18, 2017. 1. Submit application electronically to Maternal and Child Health to: [email protected] 2. The application must be typed (12 pt font) and double-spaced. Each page must be numbered sequentially beginning with Form A, the Applicant Information page. 3. Appendices must include team CVs, financial spreadsheets, and drafted goals with measurable outcomes. The appendix may include other information as you see fit. 4. All sections of the application must be submitted at the same time. Applications missing any section will not be reviewed. Questions regarding this grant application may be directed to the Maternal and Child Health Business Unit ([email protected] ) or Megan Griffie, Director of Genomics and Newborn Screening ([email protected] / 317-233-1231). Grant Application Packet Table of Contents: I. Purpose of Grant and Description of Required Services……………………...…………….………........2 i. Conditions included in treatment services ………………………………………………….3 II. FY 2018 and FY 2019 Genetic Services Grant Application Guidance….…..…………………………4-6 III. Application Forms i. Form A………………………………………………………………………………….……7 ii. Form B-1……………………………………………………………………………….…….8 iii. Form B-2……………………………………………………………………………….…….9 IV. Budget i. Budget Instructions…………………………………………………………………….........10 ii. Account Codes……………………………………………………………………………... 11 V. Resource Contact References ……………………………………........................................................... 12 VI. Definitions ……………………………………………………………………………………………… 13 1 Eligibility Criteria To be eligible for the genetic metabolic disorders funding opportunity, applicants must have a team including (at a minimum) a licensed/board-certified medical geneticist, genetic counselor(s), and social worker/case manager. Additionally, applicants must provide financial ability to maintain basic business practices (outside of the tasks included with this service) without grant awarded funding. Purpose of Grant Grant funding is offered from the Newborn Screening program to provide early intervention and follow-up services for children residing in the state of Indiana who were born with one or more metabolic disorders detected through newborn screening (see list of included disorders). Services include, but are not limited to, confirmatory testing and diagnosis, medical foods/metabolic formula, education for patient and family regarding care and lifestyle needs, family planning services for future family growth, etc. Additionally, this funding is purposed to provide genetic evaluation and counseling services while educating at both the community and health care professionals levels. Note: this funding opportunity is not intended to support personnel fees. Description of Required Services Applicants must, at a minimum, provide the following services: 1) Provide early contact with primary care provider (PCP) and families of children with newborn screening results that are positive for one or more metabolic disorder(s) and ensure that appropriate confirmatory testing is performed. 2) Provide services to patients in the State of Indiana, including the following: a) Genetic counseling, pre and post-diagnosis counseling, for prenatal patients (pregnant women) as appropriate; b) Evaluation and counseling to patients and families; and c) Other consultations as necessary. 3) Address access to care with patients and families (appropriateness of care/providers, transportation needs, funding and other resources available) 4) When appropriate, provide education to patients and families regarding the positive effects of family planning and options for future family growth as a genetic carrier, as well as referral to MCH programs as needed. 5) Provide educational presentations to the general public, health care professionals and college or graduate-level students regarding the field of medical genetics and the conditions treated. Note: use of technology and social media is highly encouraged Reporting Requirements 1) The grantee will be expected to maintain a log of follow-up services provided for all children receiving services funded by this grant. Note: this log is not intended to be shared regularly with ISDH, but must be provided upon request. Child’s name List of any additional information included in Child’s DOB the packet Parent’s name, address and zip code Method of consultation PCP’s name and address Date and time of consultation Date and time of phone conversations Summary of consultation Summary of phone conversation List of information provided to the parents Date packets were mailed Received completed evaluation Name and address where packets were mailed 2) The grantee will be required to meet with and submit bi-annual reports to ISDH Genomics and Newborn Screening team. 3) The grantee will be required to report quarterly to the ISDH Newborn Screen Follow-up Coordinator all children cared for and those who were missed or refused care, with rationale and attached documents waiving care. (Quarterly report sent to [email protected] ) 4) The grantee will be expected to utilize the Indiana Newborn Screening Tracking & Education Program (INSTEP) web application, when available, to maintain complete records, obtain NBS lab results, and track all children receiving services funded by this grant. 5) The grantee will be required to report any patients with a reportable birth defect to the Indiana Birth Defects and Problems Registry (IBDPR). 6) The grantee will create a waiver for parents wanting to opt out of these follow-up services and will keep a list of individuals opting out or lost to follow-up. 2 Metabolic Conditions Amino Acid (AA) Disorders (includes urea cycle disorders) Arginase deficiency (argininemia) Argininosuccinic aciduria Biopterin cofactor defects Citrullinemia (CIT type I) Citrin deficiency (CIT type II) Homocystinuria (HCY) Hypermethioninenemia Hyperphenylalaninemia Maple syrup urine disease (MSUD) Phenylketonuria (PKU) Tyrosinemia type I Tyrosinemia type II Tyrosinemia type III Fatty Acid Oxidation (FAO) Disorders 2,4-dienoyl-CoA reductase deficiency Carnitine-acylcarnitine translocase deficiency (CACT) Carnitine palmitoyltransferase deficiency I (CPT IA) Carnitine palmitoyltransferase deficiency II (CPT II) Carnitine uptake defect (CUD) Glutaric acidemia type II (also called GA type II, electron transfer flavoprotein deficiency, ETF deficiency, multiple acyl-CoA dehydrogenase deficiency, or multiple FAD dehydrogenase deficiency) Long chain hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) Medium chain acyl-CoA dehydrogenase deficiency (MCAD) Short chain acyl-CoA dehydrogenase deficiency (SCAD) Short chain hydroxyacyl-CoA dehydrogenase deficiency (SCHAD) Trifunctional enzyme deficiency Very long chain acyl-CoA dehydrogenase deficiency (VLCAD) Organic Acidemias (OA) 2-Methylbutyrylglycinuria (2-MBG) 3-Hydroxy-3-methyl glutaric aciduria (HMG) 3-Methylcrotonyl-CoA carboxylase deficiency (3-MCC deficiency) 3-Methylglutaconic acidemia (3-MGA) Beta-ketothiolase deficiency Glutaric acidemia, type I (GA type I) Isobutyrylglycinuria (IBG) Isovaleric acidemia (IVA) Malonic aciduria (MAL) Methylmalonic acidemia (MUT or methylmalonyl-CoA mutase) Methylmalonic acidemia with cobalamin disorders (CblA & CblB) Methylmalonic academia with homocystinuria (CblC & CblD) Multiple-CoA carboxylase deficiency Propionic acidemia Other metabolic conditions Biotinidase deficiency Galactosemia (including variants) 3 FY 2018 & FY 2019 Genetic Services Application Guidance Please complete/create the following components 1. Applicant Information Page (Form A) (provided) This is the first page of the proposal. Complete all items on the page provided (Form A). The project director and the person authorized to make legal and contractual agreements for the applicant agency must sign and date this document. If the project will not require a medical and/or dental director, write “not applicable” on the appropriate line(s). All appropriate lines must be signed and dated. 2. Table of Contents (created by applicant) The table of contents must indicate the page where each section begins, including appendices. 3. Genetic Metabolic Disorders Services Proposal Narrative A. Summary (created by applicant) Begin this page with the Title of Project as stated on the Applicant Information Page. The summary will provide the reviewer a succinct and clear overview of the proposal. The summary should: Relate to Genetic Metabolic Disorders Program services only; Identify the problem(s) to be addressed; Outline work plans to meet requirements of services provided Succinctly state goals of your work plan; Include a brief overview of evaluation/quality assurance methods B. Forms B-1 and B-2 (provided) All information on the Project Description Forms (Forms B-1 and B-2) must be completed. This summary form with its narrative will become part of the grant agreement and will also be used as a fact sheet on the project. Form B-2 requests specific information on each clinic site. The following