Search Results: MCHLine

Annotation: This brochure provides information for parents of children with hearing loss. The brochure discusses genetics and hearing loss; insurance and paying for genetic testing; what parents should do once hearing loss has been diagnosed; why it is important for children with hearing loss to be seen by a geneticist; how to prepare for the genetics appointment; and what happens at the appointment.

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.

• English
• Spanish

Keywords: Children, Consumer education materials, Genes, Genetic disorders, Genetic screening, Genetic services, Genetics, Hearing disorders, Hearing screening, Hearing tests, Infants

Annotation: This toolkit is for midwives, doulas, and other childbirth educators to introduce newborn screening into midwifery practices and into nontraditional settings including childbirth education classes. Brochures, videos, and other educational materials are provided for the states of New York, Delaware, District of Columbia, Maryland, New Jersey, New York, Pennsylvania, Virginia, and West Virginia. Links to resources for national audiences are provided from the March of Dimes, the Health Services and Resources Administration, Genetic Alliance, and the Save Babies Through Screening Foundation. Materials are available in English and Spanish, with items from Pennsylvania available in Chinese, French, Portuguese, Vietnamese, and Russian.

Contact: Wadsworth Center for Laboratories and Research, NYS Department of Health, Empire State Plaza, P.O. Box 509, Albany, NY 12201-0509, Telephone: (518) 474-2160 Web Site: http://www.wadsworth.org Available from the website.

• Link

Keywords: Childbirth education, Educational materials, Genetic screening, Midwifery, Midwives, Neonatal screening, Newborn infants, Spanish language materials

Annotation: This report presents findings on the evidence base for different types of genetic tests for patient management and provides recommendations to advance the development of an adequate evidence base for genetic tests to improve patient care and treatment. Contents include information about the uses of genetic testing; ethical, legal, and social implications; assessment of genetic tests; evidence; and recommendations for research and a framework for decision making related to the use of genetic tests in clinical care.

Contact: National Academies Press, 500 Fifth Street, N.W., Keck 360, Washington, DC 20001, Telephone: (202) 334-3313 Secondary Telephone: (888) 624-8373 Fax: (202) 334-2451 E-mail: [email protected] Web Site: http://www.nap.edu Available from the website.

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• Link

Keywords: Decision making, Disease management, Evaluation methods, Genetic screening, Models, Outcome and process assessment, Patient care, Policy development, Research, Screening tests

Annotation: This chart provides information about state-specific legislation that mandates the coverage of medically necessary foods by employer-sponsored health insurance, Medicaid, and coverage and related services funded by other state programs such as the Supplemental Food Program for Women, Infants, and Children (WIC); Title V; or relief funds. Contents include descriptions of medical foods products, abbreviations and definitions, a list of coverage types for dietary treatments of disorders identified through newborn screening, and a list of states that provide phenylketonuria (PKU) only coverage. Details about covered services and any benefit limits or age and income restrictions are included. [Funded by the Maternal and Child Health Bureau]

Contact: Catalyst Center, the National Center for Health Insurance and Financing for Children and Youth with Special Health Care Needs, Boston University School of Public Health, Center for Advancing Health Policy and Practice, 801 Massachusetts Avenue, Boston, MA 02218-2526, Telephone: (617) 638-1930 E-mail: [email protected] Web Site: https://ciswh.org/project/the-catalyst-center/ Available from the website.

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Keywords: Access to health care, Diet therapy, Dietary assessment, Financing, Food supplements, Genetic disorders, Health insurance, Medicaid, Metabolic diseases, Newborn infants, Newborn screening, Nutrition, Phenylketonuria, Postnatal care, Regulations, Special health care needs, State legislation, State programs, Title V programs, Unfunded mandates, WIC program

Annotation: This toolkit for primary care practices provides information and resources on identifying and caring for children and adolescents with genetic conditions. Topics include collecting family health history, identifying clients with suspected genetic conditions, and providing appropriate and coordinated care for clients with genetic conditions. Contents include action steps, communication tips, and additional resources. Examples from practices who participated in a quality improvement project are included. [Funded by the Maternal and Child Health Bureau]

Contact: Genetics in Primary Care Institute , National Center for Medical Home Implementation, c/o American Academy of Pediatrics , 345 Park Boulevard, Itasca, IL 60143, Telephone: (847) 434-7605 Secondary Telephone: (800) 433-9016, ext. 7605 Web Site: http://geneticsinprimarycare.org/Pages/default.aspx Available from the website.

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Keywords: Adolescents with special health care needs, Children with special health care needs, Genetic counseling, Genetic disorders, Genetic history, Genetic screening, Pediatric care, Program coordination, Service integration

Annotation: This bochure describes the importance of newborn screening in the early detection of heritable and genetic conditions that may otherwise be hidden in infancy or early childhood. It outlines the history of newborn screening in the United States in the past 50 years, the importance of blood-spot samples from every newborn being screened by a laboratory, the public health success of newborn screening, the economic benefits of early detection of conditions, the success of pre-discharge hearing and heart screening, and the importance of evolving and improving newborn screening. The brochure contains tables describing the most common disorders screened for and partners in the screening process. It also provides several vignettes of people who were diagnosed with various conditions and were able to lead healthy lives because their conditions could be treated if diagnosed early.

Contact: Association of Public Health Laboratories, 8515 Georgia Avenue, Suite 700 , Silver Spring, MD 20910, Telephone: (240) 485-2745 Secondary Telephone: (240) 485-2747 Fax: (240) 485-2700 E-mail: [email protected] Web Site: http://www.aphl.org Available from the website.

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Keywords: Blood tests, Genetic screening, Hearing tests, Neonatal screening, Newborn infants, Screening tests

Annotation: This resource provides information about genetics and health. Topics include how genes work; genes, lifestyle, and environment; collecting family health history; genetic disease information; advocacy and support groups; financial planning; talking to families and health professionals; compensation for genetic testing; whole genome sequencing; screening vs. testing; disease research; patient privacy; clinical trials; and biobanks. Features include Ask the Experts, frequently asked questions, and a blog. [Funded in part by the Maternal and Child Health Bureau]

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.

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Keywords: Communication, Counseling, Family health, Genetics, Information sources, Medical history, Research, Screening, Testing

Annotation: This fact sheet describes a procedure to analyze cell-free fetal DNA circulating in maternal blood as a noninvasive prenatal screening and testing effort for trisomy 21 and other fetal chromosome abnormalities. It outlines test characteristics, detection rate and accuracy, reporting results and their implications for pregnant women, testing costs and insurance coverage, what to ask laboratories offering the test, performance comparison to other forms of prenatal testing or screening, counseling women about screening and testing options, and general background.

Contact: National Coalition for Health Professional Education in Genetics, 2360 West Joppa Road, Suite 320, Lutherville, MD 21093, Telephone: (410) 583-0600 Fax: (410) 583-0520 E-mail: [email protected] Web Site: http://www.nchpeg.org Available from the website.

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Keywords: Congenital abnormalities, Down syndrome, Genetic screening, Prenatal care, Trisomy

Annotation: This brief is an electronic guide to recent resources on genetics and genomics; genetic testing, counseling, and disorders; and newborn screening. [Funded by the Maternal and Child Health Bureau]

Contact: National Center for Education in Maternal and Child Health, Georgetown University, Telephone: (202) 784-9770 E-mail: [email protected] Web Site: https://www.ncemch.org Available from the website.

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Keywords: Genetic counseling, Genetic disorders, Genetic screening, Genetic services, Genetics, Genomics, Newborn screening, Resources for professionals, Testing

Annotation: This website provides information on newborn screening primarily for expecting and new parents. Resources are also available for prenatal and pediatric health professionals, including information about dried blood spot storage and usage. The content is based on 2008 legislation (the Newborn Screening Saves Lives Act) to expand support, research, and education opportunities for newborn screening. The website is organized as follows: About Newborn Screening (newborn screening facts, genetic and family history, screening resources, conditions screened by state); What to Expect (before birth, testing procedure, responding to results, testing outcomes, and what happens to the blood sample); Find a Condition; and Living with Conditions (family experiences, talking about a diagnosis, advocacy and support groups, finding a specialist, insurance and planning, looking to the future). [Funded by the Maternal and Child Health Bureau]

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.

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Keywords: Blood tests, Educational materials, Family support, Genetic services, Newborn infants, Resources for professionals, Screening, Special health care needs

Annotation: This annual report describes the Nebraska program for newborn screening for inborn errors of metabolism and inherited disorders. Contents include sections on major initiatives, process and output data, plans, continuing activities. Additional sections review the newborn hearing screening system and data as well as additional projects and summaries. [Funded by the Maternal and Child Health Bureau]

Contact: Nebraska Department of Health and Human Services, P.O. Box 95026, Lincoln, NE 68509-5026, Telephone: (402) 471-3121 E-mail: [email protected] Web Site: http://www.dhhs.ne.gov Available from the website.

• 2011 Full Report

Keywords: Genetic screening, Hearing screening, Nebraska, Neonatal screening, Newborn infants, State programs

Annotation: This toolkit, for health care professionals in Vermont, provides evidence-based care topics for improving the health and prenatal care of pregnant women. It describes the Improving Prenatal Care in Vermont (IPCV) project and identifies "best practice" prenatal guidelines and assists obstetric service providers in incorporating these guidelines in to their office systems. Topics include practice assessment, patient satisfaction, tobacco cessation, nutrition, breastfeeding readiness, gestational diabetes, psychosocial/behavioral, substance abuse, intimate partner violence, depression, preterm labor, infectious disease, environmental exposure, and genetic screening. This is a companion document to the "State Guide for Improving Prenatal Care".

Contact: Vermont Child Health Improvement Program, University of Vermont College of Medicine, St. Josephs 7, UHC Campus, One South Prospect Street, Burlington, VT 05401, Telephone: (802) 656-8210 Fax: (802) 656-8368 Web Site: http://www.med.uvm.edu/vchip Available from the website.

• Practice Toolkit Main Page

Keywords: Genetic screening, Guidelines, Nutrition, Pregnancy, Pregnant women, Prenatal care, Prenatal education, Resources for professionals, Sexually transmitted diseases, State programs, Vermont

Annotation: This video for parents and expectant parents, which is available in English and Spanish, present opinions of experts and parents on the newborn screening process. It depicts how screenings are conducted, what happens afterwards, and how newborn screening results are used. State screening policies are discussed, and parents' concerns about newborn screening are addressed. Resources for more information are provided.

Contact: Save Babies Through Screening Foundation, P.O. Box 42197, Cincinnati, OH 45242, Telephone: (888) 454-3383 E-mail: [email protected] Web Site: http://savebabies.org Available at no charge; also available from the website.

• Link

Keywords: Consumer information materials, DVDs, Genetic disorders, Infant health, Multimedia, Neonatal screening, Prevention, Spanish language materials

Annotation: This paper examines the logic behind the typical recommendation by medical practitioners that only pregnant women over the age of 35 be tested for Down syndrome and other genetic disorders using amniocentesis or chorionic villus sampling (CVS) since these tests can cause miscarriage. The authors argue that such logic is incomplete, since the cost of such testing rises with age, just as the benefit does: While undergoing an amniocentesis always entails the risk of miscarriage of a healthy fetus, these costs are lower at early ages, because there is a higher probability of being able to replace a miscarried fetus with a healthy birth at a later age. In this paper, the authors present an economic model of amniocentesis choice to explore this tradeoff.

Contact: National Bureau of Economic Research, 1050 Massachusetts Avenue, Cambridge, MA 02138-5398, Telephone: (617) 868-3900 Fax: (617) 868-2742 E-mail: [email protected] Web Site: http://www.nber.org Available from the website.

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Keywords: Amniocentesis, Chorionic villi sampling, Cost effectiveness, Economic factors, Genetic disorders, Genetic screening, Guidelines, Maternal age, Prenatal screening

Annotation: This website provides information about the 2010 Newborn Screening and Genetic Testing Symposium held in Orlando, Florida, on May 3-6, 2010. The symposium brought together almost 400 laboratories, follow-up professionals, and metabolic specialists from around the world. The site presents the symposium schedule and provides links for presentations that have been authorized for posting. Meeting session topics included health information technology, education, program quality improvement, laboratory quality improvement, international perspectives, old conditions, new information, and candidate conditions.

Contact: Association of Public Health Laboratories, 8515 Georgia Avenue, Suite 700 , Silver Spring, MD 20910, Telephone: (240) 485-2745 Secondary Telephone: (240) 485-2747 Fax: (240) 485-2700 E-mail: [email protected] Web Site: http://www.aphl.org Available from the website.

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Keywords: Conference proceedings, Education, Genetic testing, Health, Information, Laboratory techniques, Neonatal screening, Programs, Technology

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. Consumer fact sheets are also provided. The appendices include competencies in genetics for health professions. The guide is customized for the Washington, D.C. region and was produced as a partnership between the Genetic Alliance and the District of Columbia Department of Health.

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.

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Keywords: Consumer education materials, District of Columbia, Genetic counseling, Genetic screening, Genetics, Genetics education, Resources for professionals

Annotation: This report summarizes the presentations and discussions at a workshop on direct-to-consumer (DTC) genetic testing held in Washington, DC, on August 31 and September 1, 2009. The report discusses (1) scientific and ethical foundations for DTC genetic testing, (2) personal and social issues related to DTC genetic testing, (3) research and medical issues in the context of DTC genetic testing, (4) the impact on health care and public health, and (5) an overview of the current legislative and regulatory framework governing genetic testing in the United States. Each section includes a series of questions for further discussion. The report concludes with a holistic examination of areas for further study.

Contact: National Academies Press, 500 Fifth Street, N.W., Keck 360, Washington, DC 20001, Telephone: (202) 334-3313 Secondary Telephone: (888) 624-8373 Fax: (202) 334-2451 E-mail: [email protected] Web Site: http://www.nap.edu $28.75; also available from the website. Document Number: ISBN 978-0-309-16216-6.

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Keywords: Genetic screening, Health care, Legislation, Medical ethics, Public health, Regulations, Research

Annotation: This report discusses the history of newborn screening and genetic services in the United States. It discusses the development of the state-based newborn screening programs, highlights conditions for which tests exist, and lists the average number of newborn screening conditions required in United States programs. [Funded by the Maternal and Child Health Bureau]

Contact: U.S. Health Resources and Services Administration, 5600 Fishers Lane, Rockville, MD 20857, Telephone: (888) 275-4772 Secondary Telephone: (877) 464-4772 Fax: (301) 443-1246 E-mail: [email protected] Web Site: http://www.hrsa.gov Available from the website.

• PDF

Keywords: Genetic screening, History, Neonatal screening, Newborn infants, State MCH programs

Annotation: This briefing paper outlines issues surrounding the screening of young athletes for their sickle disease carrier status (sickle cell trait), a genetic condition. The report discusses research findings and reports on health outcomes of individuals with sickle sell trait, public health implications of the National Collegiate Athletic Association rule on testing athletes for sickle cell trait, and recommendations. [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.

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Keywords: Athletes, College students, Genetic disorders, Genetic screening, Public policy, Research, Sickle cell trait, Testing

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