Search Results: MCHLine

Annotation: This document describes (1) the current practice of newborn screening and the ethical challenges that come from trying to reap the benefits of screening while minimizing the harm; (2) the guiding ethical principles of the last forty years, and the debate concerning their alteration; (3) a vision of the future of newborn screening given the advances of genomic medicine; and (4) the controversy over whether states should have mandatory screening programs, elective programs, or some combination of the two. The document concludes with personal statements by prominent experts in the field of newborn screening.

Contact: President's Council on Bioethics, 1425 New York Avenue, N.W.***DEFUNCT***, Washington, DC 20005, Telephone: (202) 296-4669 E-mail: [email protected] Available from the website.

• Full Report
• Appendix

Keywords: Ethics, Genetic screening, Neonatal screening, Newborn infants, Program evaluation, Public policy

Annotation: This report examines policies and practices of biotechnology related to assisted reproduction and reviews the regulatory policies and practices involved in screening and selecting for genetic conditions and traits; modification of traits and characteristics; research involving in vitro human embryos; and commercial and financial interests in this arena. For each topic, the report reviews the relevant techniques and practices, the principal ethical issues, the existing regulatory activities, who currently provides oversight and guidance in each area, pursuant to what authority, according to what principles and values, and with what ultimate practical effect. The report concludes with findings based on the examination described above and a discussion of possible policy recommendations.

Contact: President's Council on Bioethics, 1425 New York Avenue, N.W.***DEFUNCT***, Washington, DC 20005, Telephone: (202) 296-4669 E-mail: [email protected] Available from the website.

• Full Report
• Executive Summary

Keywords: Biotechnology, Embryo, Ethics, Genetic screening, Government, Prenatal screening, Public policy, Reproductive technologies

Annotation: This monograph summarizes the proceedings from a two-day summit convened by the Genetic Alliance in September 2007 to examine the current genetic testing landscape and propose solutions to advance the field of quality diagnostics. The meeting brought together a wide variety of stakeholders to offer their concerns and opinions in an atmosphere of truth-telling and transparency. Included in the monograph are a list of goals related to the monitoring of human genome testing set forth by the Department of Health and Human Services (HHS) and a survey of the characteristics of a range of genetic tests. The monograph also addresses research and development opportunities and challenges; testing development; clinical delivery and commercialization; laboratory quality; the role of the Food and Drug Administration in oversight; and the role of professional, laboratory, and patient guidelines and best practices. A glossary of recurrent themes related to genetic testing and a summary of recommended next steps are also provided.

Contact: Genetic Alliance, 4301 Connecticut Avenue, N.W., Suite 404, Washington, DC 20008-2369, Telephone: (202) 966-5557 Secondary Telephone: (800) 336-GENE Fax: (202) 966-8553 E-mail: [email protected] Web Site: http://www.geneticalliance.org Available from the website.

• PDF

Keywords: Conference proceedings, Diagnostic techniques, Genetic screening, Genetic services, Tests

Annotation: This guide for patients and health professionals covers basic genetics concepts in addition to providing detailed information about genetic diagnosis, newborn screening, family health history, genetic counseling, and genetic testing and its application. It includes a discussion of the psychological and social implications as well as ethical and legal issues. Patient stories and consumer profiles are also provided. The appendices include competencies in genetics for health professions. The guide is customized for the New York, Mid-Atlantic region and is produced as a partnership between Genetic Alliance and the New York - Mid-Atlantic Consortium for Genetic and Newborn Screening Services.

Contact: Genetic Alliance, 4301 Connecticut Avenue, N.W., Suite 404, Washington, DC 20008-2369, Telephone: (202) 966-5557 Secondary Telephone: (800) 336-GENE Fax: (202) 966-8553 E-mail: [email protected] Web Site: http://www.geneticalliance.org Available from the website.

• Link

Keywords: Consumer education materials, Genetic counseling, Genetic screening, Genetics, Genetics education, Geographic regions, New York, Resources for professionals

Annotation: This brochure describes how sickle cell trait is different from sickle cell disease, and explains how it is genetically acquired. It also discusses genetic testing for the trait; offers guidance on talking with children who have the trait; and provides a list of organizations that can provide additional information on sickle cell trait and the newborn screening program in the state of Wisconsin.

Contact: Wisconsin Newborn Screening Laboratory, University of Wisconsin at Madison, 465 Henry Mall, Madison, WI 53706, Telephone: (608) 262-1293 Fax: (608) 262-3257 Web Site: http://www.slh.wisc.edu Available from the website.

• PDF

Keywords: Genetic disorders, Genetic screening, Screening tests, Sickle cell trait, State programs, Wisconsin

Annotation: This booklet is designed to help prenatal educators inform expectant parents about newborn screening. The booklet provides background information about newborn screening and discusses what parents need to know, credible resources for parents, the 29 disorders recommended for screening by the American College of Medical Genetics, and activities to incorporate into classes. A card about newborn screening that can be cut out and and placed in a baby book is included. [Funded by the Maternal and Child Health Bureau]

Contact: New England Genetics Collaborative , , 10 West Edge Drive, Suite 101, Durham, NH 03284, Telephone: (603) 653-6044 Web Site: http://www.negenetics.org Available from the website.

• PDF

Keywords: Consumer education materials, Diagnosis, Genetic disorders, Neonatal screening, Newborn infants, Parent education, Parent education programs

Annotation: The purpose of this manual is to provide a genetics educational resource for health professionals and consumers in the New England states and to increase awareness of specialty care in genetics. The manual opens with an introduction to genetics concepts, followed by a description of the different types and applications of genetics tests. Information on diagnosing a genetic disease; family-history taking; newborn screening; genetic counseling; indications for a genetic referral; psychological and social implications; and ethical, legal and social issues is also provided. Resources available in New England are listed, and a series of fact sheets for consumers that can be photocopied is included.

Contact: Genetic Alliance, 4301 Connecticut Avenue, N.W., Suite 404, Washington, DC 20008-2369, Telephone: (202) 966-5557 Secondary Telephone: (800) 336-GENE Fax: (202) 966-8553 E-mail: [email protected] Web Site: http://www.geneticalliance.org Available from the website.

• PDF

Keywords: Diagnosis, Genetic counseling, Genetic disorders, Genetic screening, Genetics education

Annotation: This report describes four priority areas for the Washington State Genetics Plan developed between June 2002 and May 2007. The four areas are: (1) coordination and coverage of services, (2) access to quality services, (3) confidentiality and genetic discrimination, and (4) raising awareness of genetic and disability issues. Report contents include goals, objectives, and methodology as well as descriptions of barriers encountered, accomplishments, revisions to original goals and evaluations. Additional information is provided on future plans and sustainability, and a list of selected products produced. [Funded by the Maternal and Child Health Bureau]

Contact: Maternal and Child Health Library at Georgetown University, E-mail: [email protected] Web Site: https://www.mchlibrary.org

Keywords: Access to health care, Confidentiality, Disabilities, Discrimination, Final reports, Genetic screening, Genetics, Screening, State initiatives, Washington

Annotation: This final report describes a project in Michigan from 2002-2006 to improve genetic health outcomes of Michigan residents by implementing portions of the state genetics plan. Objectives described include (1) increasing genetic literacy and improving family and health care provider access to information about resources and services for children with special health care needs; (2) expanding methods of early identification of children with special health care needs; and (3) integrating newborn screening with other maternal child health data and service delivery systems to promote linkage with intervention services including the medical home. Report contents include an overview of the project's original goals and objectives, methodology, accomplishments, evaluation, lessons learned, future plans and next steps, and plans for sustainability. Also included are a list of peer reviewed publications and presentations, products developed during the project, and appendices with samples of publications and presentations. [Funded by the Maternal and Child Health Bureau]

Contact: Maternal and Child Health Library at Georgetown University, E-mail: [email protected] Web Site: https://www.mchlibrary.org

Keywords: Children with special health care needs, Early intervention, Final reports, Genetic counseling, Genetic screening, MCH services, Michigan, Neonatal screening, Program descriptions, Service integration, State programs, Strategic plans

Annotation: This publication consists of a collection of brief stores of individuals who have undergone genetic testing for a variety of conditions. Each story is told in the individual's own voice. Topics include carrier testing, diagnostic testing, gene mapping, predictive, and prognostic. For each topic there are several stories, each focusing on a different condition.

Contact: Genetic Alliance, 4301 Connecticut Avenue, N.W., Suite 404, Washington, DC 20008-2369, Telephone: (202) 966-5557 Secondary Telephone: (800) 336-GENE Fax: (202) 966-8553 E-mail: [email protected] Web Site: http://www.geneticalliance.org Available from the website.

• PDF

Keywords: Personal narratives, Carrier state, Diagnostic techniques, Genetic counseling, Genetic disorders, Genetic screening

Annotation: This guide describes the metabolic and genetic newborn screening program in Tennessee. Topics covered include (1) Tennessee law; (2) excerpts taken from rules and regulations; (3) hospital responsibility; (4) state laboratory and maternal and child newborn screening follow-up section responsibilities; (5) weekend and holiday calls; (6) primary care provider responsibilities and follow-up; (7) list of endocrinologists, genetic, and sickle cell centers; and (8) metabolic and genetic disorders.

Contact: Tennessee Department of Health, Maternal and Child Health Section , Fifth Floor, Cordell Hull Building, 425 Fifth Avenue, North, Nashville, TN 37247, Telephone: (615) 741-7353 Fax: (615) 741-1063 E-mail: Theodora. [email protected] Web Site: http://www.state.tn.us/health/ Available from the website.

• PDF

Keywords: Genetic disorders, Genetic screening, Hospitals, Legislation, Metabolic diseases, Neonatal screening, Primary care, Screening tests, State programs, Tennessee

Annotation: This report summarizes 4 discussions held by a 21 member panel during 2007 concerning the feasibility of a biobank in Connecticut and the value it might add to the study of preterm births and birth defects. Biobank models; funding sources; possible increases in research potential; affordability, ethical, legal, and social issues; and the likely public and private perceptions of such a bank all receive examination. Findings and recommendations conclude the report.

Contact: Connecticut Department of Public Health, 410 Capitol Avenue, Hartford, CT 06134-0308, Telephone: (860) 509-8000 E-mail: [email protected] Web Site: http://www.ct.gov/dph Available from the website.

• PDF

Keywords: Bioethics, Budgets, Congenital abnormalities, Connecticut, Genetic markers, Genetics, Low birthweight, Prenatal screening, Preterm birth, State programs

Annotation: This report describes a project in Brooklyn, NY from 2002-2006 to broaden education, community-based screening and genetic counseling, and to increase the reach of at-risk community members who lack understanding of the impact of sickle cell disease upon their communities. Contents include an overview of the program needs and goals and objectives, progress to date, efforts in the communities, and the consortium and other collaborations. Appendices include questionnaires, sample forms and reports, processes, workshop questions and tests, and events held. [Funded by the Maternal and Child Health Bureau]

Contact: Brooklyn Hospital Center, Genetics Unit, 121 DeKalb Avenue, Brooklyn, NY 11201, Telephone: (718) 403-8032 Web Site: http://www.tbh.org/healthcare-services/reproductive-genetics

Keywords: Blacks, Community based services, Genetic screening, Hemoglobinopathies, Neonatal screening, New York, , Outreach, Sickle cell disease, Sickle cell trait

Annotation: This DVD explains to expecting parents what newborn screening is, the test procedure, and what parents need to do if retesting is necessary. It discusses the public health program state requirement for testing within the first two days after birth for common and rare conditions. The DVD contains both English and Spanish versions.

Contact: March of Dimes, 1275 Mamaroneck Avenue, White Plains, NY 10605, Telephone: (914) 997-4488 Secondary Telephone: Web Site: http://www.marchofdimes.com $22.00, plus shipping and handling.

Keywords: Audiovisual materials, Consumer education materials, DVDs, Genetic screening, Infant health, Neonatal screening, Screening tests, Spanish language materials

Annotation: This report describes a project to strengthen and improve the follow-up, education, counseling, and coordination of care for families of infants who test positive for sickle cell disease or sickle cell trait. Report contents include descriptions of the population serviced in the five county region of Southeast Florida and barriers to service delivery, goals and objectives of the project, an outline of process measures, and a list of highlights of the project years 2003-2005. Appendices include books, booklets, and other handout informational materials for parents of children who tested positive for sickle cell disease/trait. Also included are a DVD and a VHS tape with a new born screening documentary video in English and Creole.

Contact: Sickle Cell Foundation of Palm Beach County, 1600 North Australian Avenue, West Palm Beach, FL 33407-5621, Telephone: (561) 833-3113 Fax: (561) 659-4505 Web Site: http://www.sicklecellpalmbeach.org

Keywords: Genetics education, Final reports, Florida, Genetic counseling, Genetic screening, Hemoglobinopathies, Local programs, Non English language materials, Sickle cell disease

Annotation: This document presents results of a national process to develop recommendations for nationally recognized newborn screening system standards and policies. It describes criteria for analysis, data collection, developing a uniform screening panel, specifics of disorders considered for inclusion in a national system, and recommendations for further research.

Contact: American College of Medical Genetics, 7220 Wisconsin Avenue, N.W., Suite 300, Bethesda, MD 20814, Telephone: (301) 718-9603 Fax: (301) 718-9604 E-mail: [email protected] Web Site: http://www.acmg.net Available from the website.

• PDF
• Program Website

Keywords: Federal MCH programs, Genetic screening, MCH research, Neonatal screening, Newborn infants, Standards, State programs

Annotation: This paper summarizes the outcomes of a workgroup meeting convened by the Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children (ACHDGDNC) to discuss how to establish a rigorous evaluation and recommendation process to determine the suitability of screening for certain rare inherited disorders. The paper includes background on ACHDGDNC; an overview of the nomination form for adding conditions to the uniform screening panel of 29 conditions; issues in evidence review for genetics and pediatric and newborn screening; and a case study on the evaluation of Pompe disease. [Funded by the Maternal and Child Health Bureau]

Contact: U.S. Advisory Committee on Heritable Disorders in Newborns and Children, U.S. Maternal and Child Health Bureau, Parklawn Building, 5600 Fishers Lane, Rockville, MD 20857, Telephone: (301) 443-1080 Web Site: http://www.hrsa.gov/advisorycommittees/mchbadvisory/heritabledisorders/ Available from the website.

• PDF

Keywords: Children, Evaluation, Genetic disorders, Genetic testing, Infants, Screening

Annotation: This report, made available for public comment, describes an analysis of the scientific literature on the effectiveness of newborn screening and gathers expert opinion to delineate the best evidence for screening specified conditions and develop recommendations focused on newborn screening, including the development of a uniform condition panel. The report is divided into several sections: the introduction; developing a uniform screening panel; and the newborn screening system: program evaluation, cost-effectiveness, information needs, and future needs. Report contents begin with a methods section providing the broad context for the newborn screening system and the overarching principles for developing newborn screening guidelines. Criteria used in the analyses of condition under consideration for newborn screening programs are described. Following is a description of the development and use of data collection tools to collect data that would complement evidence gathers from a review of the scientific literature, and also a description of the process for obtaining additional expert information and opinion. The results of these analyses are provided as well as recommendations for moving forward. References conclude the report. Statistical data are provided in figures throughout the report. Appendices include samples of (1) newborn screening fact sheet validation and fact sheets; (2) condition evaluation tool; (3) condition ACT(ion) sheets; (4) program standards; and (5) HIPPA guidance for public health programs. One box provides information about the Wilson-Junger criteria for appraising the validity of a screening program. [Funded by the Maternal and Child Health Bureau]

Contact: U.S. Maternal and Child Health Bureau, Health Resources and Services Administration, 5600 Fishers Lane, Rockville, MD 20857, Telephone: (301) 443-2170 Web Site: https://mchb.hrsa.gov Available from the website.

• Full Report
• Program Website

Keywords: Federal MCH programs, Genetic screening, MCH research, Neonatal screening, Newborn infants, Standards, State programs

Annotation: This manual assists primary care practitioners and pediatricians in navigating the newborn blood spot screening process in Minnesota. The manual is intended to help clinicians answer basic questions about newborn blood spot screening and define their roles in the follow-up of abnormal results, collection of repeat specimens, and assurance that all infants in their practice have documented results. Contents also include brochures and fact sheets for practitioners and parents as well as appendices providing technical and program information, resources for parents, and a bibliography and references.

Contact: Minnesota Children with Special Health Care Needs, Minnesota Department of Health, 85 East Seventh Place / P.O. Box 64975, St. Paul, MN 55164-0882, Telephone: (651) 201-5000 Secondary Telephone: (800) 345-0823 E-mail: [email protected] Web Site: http://www.health.state.mn.us/divs/fh/mcshn/mcshn.html Available from the website.

• PDF

Keywords: Genetic screening, Manuals, Minnesota, Neonatal screening, Newborn infants, Resources for professionals, State programs

Annotation: This brochure for parents of newborns provides information about newborn screening conducted to detect hidden disorders. The brochure explains what newborn screening is, how it is done, and its purpose. The brochure also discusses what hidden disorders are, why screening is important, whether parents can elect not to have their infant screened, screening costs, what happens to blood samples, whether infants can be screening for other disorders, and where to go for more information. It is available in English and Spanish.

Contact: Wisconsin Newborn Screening Laboratory, University of Wisconsin at Madison, 465 Henry Mall, Madison, WI 53706, Telephone: (608) 262-1293 Fax: (608) 262-3257 Web Site: http://www.slh.wisc.edu Available from the website.

• English
• Spanish

Keywords: Consumer information materials, Disorders, Genetic disorders, Genetic screening, Hearing disorders, Hearing screening, Infant health, Neonatal screening, Screening tests, Spanish language materials