Understanding Genetics:
A Guide for Patients
and Professionals
Download the entire manual (pdf format, 1 MB)
Or download by chapter.
Chapter 1: Genetics 101 download [364 kb .pdf]
Provides some fundamental information about basic genetic concepts including cell structure, the molecular and biochemical basis of disease, major types of genetic disease, laws of inheritance, and impact of genetic variation.
Chapter 2: Diagnosis of a Genetic Disease download [102 kb .pdf]
Provides information about the importance of clinical signs such as family history that may be suggestive of a genetic disease, the different uses of genetic testing, and the different types of genetic diseases.
Chapter 3: Pedigree and Family-History Taking download [309 kb .pdf]
Family history can be a powerful screening tool and has often been referred to as the best “genetic test.”
Chapter 4: Newborn Screening download [120 kb .pdf]
Provides an overview of newborn screening programs and the specific conditions and procedures for the District of Columbia, Virginia, and Maryland.
Chapter 5: Genetic Counseling download [95 kb .pdf]
Provides an overview of the role of genetic counselors, and their approach to educating patients and identifying individuals/families at risk of a genetic disorder. In addition, some useful resources are provided where patients may be referred to for additional information.
Chapter 6: Indications for a Genetic Referral download [79 kb .pdf]
Provides a brief overview of points to consider that may indicate when a genetics referral is appropriate.
Chapter 7: Psychological and Social Implications download [89 kb .pdf]
Understanding the unique aspects of genetic information and anticipating reactions to genetic tests and diagnoses can help guide a course of action to minimize distress and maximize benefit for both the patient and family.
Chapter 8: Ethical Legal and Social Implications download [73 kb .pdf]
Provides a brief overview of these issues with descriptions of some of the major ELSI concerns related to genetic testing.
Chapter 9: Patient Stories and Consumer Profiles download [45 kb .pdf]
This chapter contains four stories about inherited cancer, newborn screening, lateonset disease and family history told from the perspective of a patient or consumer.
Chapter 10: DC Community Health Programs and Centers download [81 kb .pdf]
This chapter contains contact information about D.C. Community Health Programs and Centers that provide healthcare services, consultation, and testing to
patients in need.
Chapter 11: Consumer Fact Sheets download [323 kb .pdf]
Family History (Fact Sheet from CDC) * Basic Genetic Information * Dominant and Recessive Genetic Diseases * X-linked Genetic Diseases * What is a Chromosome Abnormality? * Understanding Genetic Testing * Deciding Whether to Have a Genetic Test * Prenatal Diagnosis * Birth Defects & Congenital Disorders * Newborn Screening
Appendix download [292 kb .pdf]
District of Columbia Department of Health–Integrated Health Data System Classical Mendelian Genetics (Patterns of Inheritance) * Genetic Testing
Methodologies * Teratogens/Prenatal Substance Abuse * Prenatal Diagnosis Maternal Serum Marker Screening * Single-Gene Disorders * Chromosomal
Abnormalities * Pharmacogenetics * Cultural Competencies in Genetics NCHPEG Principles of Genetics for Health Professionals * CDC Genomic
Competencies for the Public Health Workforce
