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The purpose of this manual is to provide an educational genetics resource for individuals, families, and health professionals in the New York – Mid-Atlantic region and increase awareness of specialty care in genetics. The manual begins with a basic introduction to genetics concepts, followed by a description of the different types and applications of genetic tests. It also provides information about diagnosis of genetic disease, family history, newborn screening, and genetic counseling. Resources are included to assist in patient care, patient and professional education, and identification of specialty genetics services within the New York – Mid-Atlantic region. At the end of each section, a list of references is provided for additional information. Appendices can be copied for reference and offered to patients. These take-home resources are critical to helping both providers and patients understand some of the basic concepts and applications of genetics and genomics.
Contents
- Acknowledgements
- PREFACE
- Genetic Alliance Mandate for Quality Genetic Services
- CHAPTER 1. GENETICS 101
- CHAPTER 2. DIAGNOSIS OF A GENETIC DISEASE
- CHAPTER 3. PEDIGREE AND FAMILY HISTORY-TAKING
- CHAPTER 4. NEWBORN SCREENING
- CHAPTER 5. GENETIC COUNSELING
- CHAPTER 6. INDICATIONS FOR A GENETIC REFERRAL
- CHAPTER 7. PSYCHOLOGICAL AND SOCIAL IMPLICATIONS
- CHAPTER 8: ETHICAL, LEGAL, AND SOCIAL ISSUES
- CHAPTER 9. PATIENT STORIES AND CONSUMER PROFILES
- CHAPTER 10. GENETIC RESOURCES AND SERVICES
- Delaware Resources
- Delaware Genetics Providers/Referrals
- District of Columbia Resources
- District of Columbia Genetics Providers/Referrals
- Maryland Resources
- Maryland Genetics Providers/Referrals
- New Jersey Resources
- New Jersey Genetics Providers/Referrals
- New York Resources
- New York Genetics Providers/Referrals
- Pennsylvania Resources
- Pennsylvania Genetics Providers/Referrals
- Virginia Resources
- Virginia Genetics Providers/Referrals
- West Virginia Resources
- West Virginia Genetics Providers/Referrals
- Regional Resources
- National Resources
- APPENDIX A BASIC GENETICS INFORMATION
- APPENDIX B FAMILY HISTORY IS IMPORTANT FOR YOUR HEALTH
- APPENDIX C FAMILY HEALTH HISTORY QUESTIONNAIRE
- APPENDIX D HEALTHCARE PROVIDER CARD
- APPENDIX E INHERITANCE PATTERNS
- APPENDIX F CHROMOSOMAL ABNORMALITIES
- APPENDIX G GENETIC TESTING
- APPENDIX H PRENATAL SCREENING AND TESTING
- APPENDIX I GENETIC TESTING METHODOLOGIES
- APPENDIX J NEWBORN SCREENING
- APPENDIX K BIRTH DEFECTS
- APPENDIX L GENETICS AND THE ENVIRONMENT
- APPENDIX M PHARMACOGENOMICS AND PHARMACOGENETICS
- APPENDIX N INTEGRATED HEALTH DATA SYSTEMS
- APPENDIX O MAKING SENSE OF YOUR GENES: A GUIDE TO GENETIC COUNSELING
- APPENDIX P CULTURAL COMPETENCY IN GENETICS
- APPENDIX Q National Coalition for Health Professional Education in Genetics (NCHPEG): Principles of Genetics for Health Professionals
- APPENDIX R CENTERS FOR DISEASE CONTROL AND PREVENTION (CDC): GENOMIC COMPETENCIES FOR ALL PUBLIC HEALTH PROFESSIONALS AND CLINICIANS
- NLM CatalogRelated NLM Catalog Entries
- Review Understanding Genetics: A District of Columbia Guide for Patients and Health Professionals[ 2010]Review Understanding Genetics: A District of Columbia Guide for Patients and Health ProfessionalsGenetic Alliance, District of Columbia Department of Health. 2010 Feb 17
- Review Understanding Genetics: A New England Guide for Patients and Health Professionals[ 2010]Review Understanding Genetics: A New England Guide for Patients and Health ProfessionalsGenetic Alliance, The New England Public Health Genetics Education Collaborative. 2010 Feb 17
- American Society of Clinical Oncology policy statement update: genetic testing for cancer susceptibility.[J Clin Oncol. 2003]American Society of Clinical Oncology policy statement update: genetic testing for cancer susceptibility.American Society of Clinical Oncology. J Clin Oncol. 2003 Jun 15; 21(12):2397-406. Epub 2003 Apr 11.
- A process for developing community consensus regarding the diagnosis and management of attention-deficit/hyperactivity disorder.[Pediatrics. 2005]A process for developing community consensus regarding the diagnosis and management of attention-deficit/hyperactivity disorder.Foy JM, Earls MF. Pediatrics. 2005 Jan; 115(1):e97-104.
- A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment.[Genet Med. 2015]A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment.Hampel H, Bennett RL, Buchanan A, Pearlman R, Wiesner GL, Guideline Development Group, American College of Medical Genetics and Genomics Professional Practice and Guidelines Committee and National Society of Genetic Counselors Practice Guidelines Committee. Genet Med. 2015 Jan; 17(1):70-87. Epub 2014 Nov 13.
- Understanding GeneticsUnderstanding Genetics
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