Search Results: MCHLine

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.

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

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.

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

Annotation: This website provides content from meetings of the Advisory Committee on Heritable Disorders in Newborns and Children beginning with the first meeting in June 2004, including presentations, minutes, comments, and agendas. Audio archives are provided for some of the meetings.

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: Child health, Genetic disorders, Infant health, Meetings, Newborn infants

Annotation: This report brings together a growing body of scientific research demonstrating substantial disparities in pharmaceutical therapy for Hispanic Americans. The report discusses disparities in relation to asthma and Hispanic children, mental illness, and status of research; genetics and individualized response to drugs in Hispanics in relation to asthma, diabetes, heart attack, and Alzheimers disease; clinical implications of variations in genes regulating drug metabolism; undertreatment of coexisting conditions; and communication, culture, and implications of optimal pharmaceutical care. Statistical information is presented in figures throughout the report. The report includes conclusions, recommendations, and references.

Contact: National Alliance for Hispanic Health, 1501 16th Street, N.W., Washington, DC 20036-1401, Telephone: (202) 387-5000 Secondary Telephone: (866) 783-2645 Fax: E-mail: Web Site: http://www.hispanichealth.org Available from the website.

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Keywords: Alzheimers disease, Asthma, Children, Communication, Cultural factors, Culture, Diabetes, Drug therapy, Genetics, Heart diseases, Hispanic Americans, Mental disorders, Pharmaceuticals, Research, Treatment

Annotation: This report evaluates a randomized controlled study using a specially designed home visitation program including resource mothers to help women with phenylketonuria (PKU) attain metabolic control prior to and throughout pregnancy in order to prevent the adverse effects of maternal PKU. Report sections include the nature of the research problem, goals and objectives, the study methodology, an evaluation, and a review of the results/outcomes. Also included is a list of publications and products, an outline of the dissemination/utilization of study results, and references. Tables provide additional information mothers' background variables, blood measurement variables, diet variables, and treatment plan assessment schedules. a review of the literature; an outline of the study design and methods; a presentation of findings; and a discussion of findings and recommendations for policy implications and further research. Also provided are a list of products developed and references.

Contact: Maternal and Child Health Library at Georgetown University, Contact Phone: (617) 355-4686 Contact Fax: (617) 355-7346 E-mail: [email protected] Web Site: https://www.mchlibrary.org Available from the website.

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Keywords: Congenital abnormalities, Fetal development, Final reports, Genetic disorders, Intervention, MCH Research, Maternal fetal exchange, Maternal phenylketonuria, Nutrition, Pregnant women, Resource mothers

Annotation: This program provides an introduction to psychiatric genetics, with a focus on the genetics of common complex disease, for genetics professionals. It provides an introduction to complex disease and an overview of psychiatry, then discusses research in psychiatric genetics, unipolar (major) depression, bipolar disorder, schizophrenia, issues in psychiatric genetic counseling, and the future. The CD-ROM can be used on Windows and Macintosh computers.

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: Audiovisual materials, Bipolar disorder, CD-ROMs, Depression, Genetics, Genetics counseling, Psychiatry, Research, Schizophrenic disorders

Annotation: This curriculum is designed to serve as a bridge between primary care and genetics. The curriculum includes modules focusing on the following eight areas: (1) breast/ovarian cancer, (2) cardiovascular disease, (3) colorectal cancer, (4) congenital hearing loss, (5) dementia, (6) developmental delay, (7) iron overload, and (8) ethical, legal, and social issues. Each module includes teaching cases with questions and discussion to illustrate genetic themes and diagnoses. Each module also includes references to key documents and useful Web sites for additional background information. An overview of the Genetics in Primary Care (GPC) program and a list of its members from 1998-2001 are provided. [Funded in part by the Maternal and Child Health Bureau]

Contact: National Newborn Screening and Genetics Resource Center, University of Texas Health Science Center at San Antonio, 1912 West Anderson Lane, Suite 210, Austin, TX 78757, Telephone: (512) 454-6419 Fax: (512) 454-6509 E-mail: [email protected] Web Site: http://genes-r-us.uthscsa.edu Available from the website.

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Keywords: Breast cancer, Cardiovascular disease, Colon cancer, Curricula, Developmental disabilities, Ethics, Genetics, Hearing disorders, Iron overload diseases, Legal issues, Mental disorders, Ovarian cancer, Primary care, Professional education materials

Annotation: This report presents research examining the efforts of organizations serving the needs of families and individuals affected by genetic conditions. This research is one phase in the development of a toolkit to guide efforts to conduct education and outreach on genetics and health care to promote informed health care decisions, particularly for the underserved. This current phase of research is focused specifically on efforts of organizations to meet the needs of individuals and families affected by known genetic conditions.The report is organized into three main sections. Section 1 discusses issues related to the content of outreach materials produced, the development of these materials, modes of dissemation to consumers, and the gneral health outreach context in which they operate. Section 2 discusses lessons learned by consumer organizations that have direct bearing on outreach efforts. Section 3 discusses specific next steps to be carried out as the research project moves forward. [Funded by the Maternal and Child Health Bureau]

Contact: National Newborn Screening and Genetics Resource Center, University of Texas Health Science Center at San Antonio, 1912 West Anderson Lane, Suite 210, Austin, TX 78757, Telephone: (512) 454-6419 Fax: (512) 454-6509 E-mail: [email protected] Web Site: http://genes-r-us.uthscsa.edu Available from the website.

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Keywords: Development, Education, Educational materials, Families, Genetic disorders, Genetics, Health care, Outreach, Research, Underserved communities, Writing

Annotation: This document is the conference proceedings, program, and directory from the U.S. Maternal and Child Health Bureau (MCHB) Invitational Meeting on the topic of genetic medicine and technology held in November, 1999, in Arlington, Virginia. It includes a brief history of the MCHB Genetic Services Branch and a discussion of the National Agenda for Children with Special Health Care Needs (CSHCN) as part of the Healthy People 2010 objectives. It also provides agendas and summaries of the three meeting tracks whose themes were translating recommendations into action, promotion of the early identification of CSHCN needs through infrastructure development, and improvement and integration of health services for infants and children with genetic conditions. Speaker/staff biographies, a guest directory, a list of MCHB SPRANS genetics projects, and fact sheets on family-centered care for CSHCN and cultural competency are also included. [Funded by the Maternal and Child Health Bureau]

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Keywords: Children with special health care needs, Culturally competent services, Early intervention, Family centered care, Genetic disorders, Genetic services, Genetics, Health services delivery, Healthy People 2010, SPRANS, Technology

Annotation: This report discusses the activities of the Partnership for Genetics Services Pilot Program over a 2-month period to understand the involvement of the corporate Medical Affairs Department in the delivery of services to individuals with, or at risk for, genetic conditions and their families. The report includes the following components: (1) an analyis of interview findings regarding staff responsibilities, resources, challenges, and service delivery; (2) an outline of opportunities for possible next steps, (3) a presentation of the initial data collected, (4) a sketch of the prevalence of some common genetic conditions, (4) two case studies, and (5) examples of available resources. [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: Case studies, Families, Genetic counseling, Genetic disorders, Genetic predisposition, Genetic services, Health services delivery

Annotation: These proceedings are from a conference sponsored by the New England Thalassemia Program held in Boston on November 14, 1996. They define thalassemia intermedia, present data from patients, discuss research at the National Institutes of Health on the use of sodium phenylbutyrate and hydroxyurea to stimulate fetal hemoglobin, and analyze the molecular basis of the disease. Other presentations deal with the assessment of iron overload, the use of chelation therapy, splenectomy, and infection control. Finally, there is a panel discussion about treatment approaches. The proceedings are published as a special issue of The Genetic Resource (vol 11, no. 2). [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. Document Number: ISBN 1-57285-041-8.

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Keywords: Conference proceedings, Genetic disorders, Hematologic diseases, Thalassemia

Annotation: This catalog lists multilingual health materials on approximately 200 maternal and child health topics, particularly genetic disorders. This publication is designed for health professionals working in genetics, family planning, and prenatal and pediatric services. Entries include a brief description of the item, its intended audience, literacy level, ordering information, and the language in which it is written. Two indexes are included to help readers locate materials, one by topic and the other by language and ethnicity. Thirty-five languages including Spanish, French, and Vietnamese are represented. [Funded by the Maternal and Child Health Bureau]

Keywords: Asian language materials, Chronic illnesses and disabilities, Genetic disorders, Non English language materials, Patient education materials, Spanish language materials

Annotation: This CD-ROM contains guidelines for clinical practice for 15 health conditions. They were developed by the Agency for Health Care Policy and Research and are intended to provide access to clinical information and help with patient management. The guidebook explains the development of the guidelines, includes instructions for installing them on a computer system, and provides information on obtaining technical assistance. The conditions included are: acute pain management, urinary incontinence in adults, prevention of pressure ulcers, cataract in adults, depression in primary care, sickle cell disease in infants, early HIV infection, benign prostatic hyperplasia, management of cancer pain, unstable angina, heart failure, otitis media with effusion in children, quality determinants in mammography, acute lower back problems in adults, and treatment of pressure ulcers.

Contact: U.S. Agency for Healthcare Research and Quality, 5600 Fishers Lane, Rockville, MD 20857, Telephone: (301) 427-1104 Secondary Telephone: (301) 427-1364 Contact Phone: (301) 227-8364 Web Site: http://www.ahrq.gov Available from the website. Document Number: AHCPR 95-DP10.

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Keywords: CD-ROMs, Chronic illnesses and disabilities, Clinical medicine, Educational materials, Genetic disorders, Guidelines, Health care delivery, Health services, Resources for professionals

Annotation: This book is intended for the use of health professionals, policy makers, and the general public who are interested in the evolving field of genetic research. The book offers principles for actions and research and policy recommendations on key issues in genetic testing. Advantages to be gained by testing are considered, and social issues that will be affected by the use of genetic testing are reviewed. Among these are the availability of treatment, privacy, confidentiality and discrimination, personal decision-making, public health objectives, costs, and financing.

Contact: National Academies Press, 500 Fifth Street, N.W., Keck 360, Washington, DC 20001, Telephone: (202) 334-3313 Secondary Telephone: (888) 624-8373 Contact Phone: (800) 624-6242 Fax: (202) 334-2451 E-mail: [email protected] Web Site: http://www.nap.edu Available from the website. Document Number: ISBN 0-309-04798-6.

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Keywords: Genetic disorders, Genetics, Health policy, Research, Risk factors, Social policy

Annotation: This paper contains materials derived from a workshop held by the Office of Technology Assessment and the National Institute of Mental Health in January 1993. It combines them with materials from an earlier workshop and new research data and sources. It focuses on the role of mental health professionals in communicating the results of genetic research in various mental disorders to people with special health needs and their families and the possible implications in treatment. The paper includes research results for specific mental disorders, and it discusses issues related to communicating the results such as recurrence risks, genetic counseling, perceptions, and legal and ethical issues.

Contact: U.S. Government Publishing Office, 732 North Capitol Street, N.W., Washington, DC 20401, Telephone: (202) 512-1800 Secondary Telephone: (866) 512-1800 Fax: (202) 512-2104 E-mail: [email protected] Web Site: http://www.gpo.gov Available from the website. Document Number: GPO 052-003-01392-4; ISBN 0-16-04587-2.

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Keywords: Conferences, Families, Genetic disorders, Health professionals, Mental disorders, Research, Special health care needs, Treatment

Annotation: This pamphlet includes the mother's story of the birth, sickness and death of her baby who had a rare genetic disorder, and a doctor's suggestions on how to handle, emotionally and socially, the birth of a baby with defects. It is intended to support and inform new mothers to whom this happens. [Funded by the Maternal and Child Health Bureau]

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Keywords: Chromosome abnormalities, Genetic disorders, Grief, Infant death, Neonatal morbidity

Annotation: This publication presents the proceedings from an international meeting on genetic services provision held prior to the 8th International Congress of Human Genetics on October 4, 1991, in six languages including English and Spanish. The fifteen papers included discuss progress in the diagnosis, prevention, and treatment of congenital disorders, as well as with organizational problems relevant to the delivery of genetic services and the associated social and ethical issues. Specific topics include the impact of genetic diseases and birth defects monitoring systems, thalassemia, Down syndrome, genetic screening, evaluation of services, and new technologies. Geographic areas covered include Latin America, Cyprus, Denmark, Cuba, Federal Republic of Germany, and Bahia, Brazil.

Contact: March of Dimes, 1275 Mamaroneck Avenue, White Plains, NY 10605, Telephone: (914) 997-4488 Secondary Telephone: Web Site: http://www.marchofdimes.com Available in libraries.

Keywords: Congenital abnormalities, Genetic disorders, Genetic services, Genetics, International health, Non English language materials, Prenatal diagnosis, Research, Spanish language materials

Annotation: The purpose of this pamphlet is to describe the basic biologic concepts relevant to human chromosome defects and to explain the use of chromosome studies in genetic counseling and other forms of medical care. It is intended for the lay reader.

Contact: March of Dimes, 1275 Mamaroneck Avenue, White Plains, NY 10605, Telephone: (914) 997-4488 Secondary Telephone: Web Site: http://www.marchofdimes.com Available in libraries.

Keywords: Chromosome abnormalities, Chromosomes, Genetic disorders, Sex chromosomes

Annotation: These proceedings include contributions on the following psychosocial aspects of genetic counseling: process issues; cross-cultural issues; decision making in the context of genetic risk; the reproductive decision-making process after genetic counseling; support in decision making processes in the post-counseling period; reproductive choices in couples at risk for genetic disease; a protocol to address the depressive effects of abortion for fetal abnormalities discovered prenatally via amniocentesis; psychosocial intervention strategies for professionals; genetic counseling and mental retardation; Prader-Willi syndrome; pitfalls in counseling for predictive testing in Huntington disease; hemophilia and the use of genetic counseling and carrier testing within family networks; psychological implications of genetic screening; and lay conceptions of genetic disorders.

Contact: March of Dimes, 1275 Mamaroneck Avenue, White Plains, NY 10605, Telephone: (914) 997-4488 Secondary Telephone: Web Site: http://www.marchofdimes.com Available in libraries.

Keywords: Abortion, Albinism, Fragile X syndrome, Genetic counseling, Genetic counselors, Genetic disorders, Genetic screening, Huntingtons disease, Neurofibromatosis, Prader Willi syndrome, Prenatal diagnosis, Psychosocial factors

Annotation: This directory identifies the institutions of the state and the genetic services they provide. The goal of the report is is to aid health care providers in accessing services and thus improving the care of patients and families with genetic disorders or concerns about genetic diseases. [Funded by the Maternal and Child Health Bureau]

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 Contact Phone: (518) 474-7148 Web Site: http://www.wadsworth.org Available from the website.

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Keywords: Directories, Genetic disorders, Genetic services, New York