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Resources for Clinical Genetic Services
Diagnosis, Treatment and Counseling
The Clinical Services Committee was established as part of the original Mountain States Genetics Network to improve the quality and accessibility of clinical genetics services in the mountain states. The committee is currently inactive and under review. For more information, please contact Susan Bryan at susan.bryan@mostgene.org.
MSGF - Clinical Services Committee Publications
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MSGF Directory of Genetic Services
Provides information for contacting centers providing genetic diagnosis, counseling, laboratory, prenatal and patient support services in the six mountain states region.
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Impact of Medical Genetics
Genetics has been transformed from a research oriented academic field dealing with a few rare diseases into an increasing useful and accessible medical specialty. Genetically determined disorders account for a major portion of health care services.
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Referrals for a Genetic Consultation
After evaluation and diagnosis, genetics center personnel can provide advice about laboratory tests, family support groups, sources of subspecialty care, and the availability of education, community, social service, and financial resources.
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Genetic Evaluation/Genetic Counseling
A list of classical indications for genetics referrals.
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What to Expect from a Genetics Consultation
Genetic counseling is a communication process which deals with the human problems associated with the occurrence, or the risk of occurrence, of a genetic disorder in a family.
Internet Resources
Diagnosis & Management
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GeneTests
A knowledge base of expert-authored, up-to-date information relating genetic testing for the diagnosis, management, and counseling of individuals and families with inherited disorders.
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National Guideline Clearinghouse
A public resource for evidence-based clinical practice guidelines. NGC is sponsored by the Agency for Healthcare Research and Quality (formerly the Agency for Health Care Policy and Research) in partnership with the American Medical Association and the American Association of Health Plans.
Diagnostic Testing
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GeneTests(TM)
A genetic testing resource including an Introduction to Genetic Counseling and Testing concepts, a Genetics Laboratory Directory, and a Genetics and Prenatal Diagnosis Clinic Directory. A one-time on-line registration is needed for this free service.
- Biochemical Genetics Test List from UCSD
A publicly available directory of laboratories performing biochemical tests to diagnose genetic disorders. Provided by the University of California at San Diego.
Education in Genetics
- National Coalition for Health Professional
Education in Genetics
National Coalition for Health Professional Education in Genetics (NCHPEG) is an "organization of organizations" committed to a national effort to promote health professional education and access to information about advances in human genetics
- American Academy of Pediatrics Guidelines for Common Genetic Conditions
Including:
- Congenital Adrenal Hyperplasia
- Ethical Issues With Genetic Testing in Pediatrics (RE9924)
- Evaluation of the Newborn with Developmental Anomalies of the External Genitalia
- Folic Acid for the Prevention of Neural Tube Defects
- Health Supervision for Children with Achondroplasia
- Health Supervision for Children with Down Syndrome
- Health Supervision for Children with Fragile X Syndrome
- Health Supervision for Children with Marfan Syndrome
- Health Supervision for Children with Neurofibromatosis
- Health Supervision for Children with Sickle Cell Disease
- Health Supervision for Children with Turner Syndrome
- Health Supervision for Children with Williams Syndrome
- Human Immunodeficiency Virus Screening (RE9916)
- Maternal Phenylketonuria
- Molecular Genetic Testing in Pediatric Practice
- Newborn Screening for Congenital Hypothyroidism
- Prenatal Genetic Diagnosis for Pediatricians
- National Cancer Institute-Cancer Genetics
- Genetic Societies
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