This page includes trusted tools and resources for health care providers who want to learn more about genetics, genomics, and how to support patients with genetic conditions.
Professional Organizations and Practice Guidelines
- American Academy of Pediatrics
Evidence-based decision-making tools for managing common pediatric conditions and offers and health supervision overviews for many genetic conditions. - American Medical Association – Precision Medicine
Genetic and precision medicine tools, resources, and information for providers. - American College of Obstetricians and Gynecologists
Practice bulletins that cover genetic aspects related to obstetrics and gynecologic care. Helpful for managing clinical care of patients who have a genetic condition or a pregnancy that is at risk or affected by a genetic condition. - American College of Cardiology
Clinical guidelines for the primary prevention of heart disease in people at increased risk based on family history risk or genetic risk, such as with familial hypercholesterolemia. - American College of Human Genetics (ASHG)
Focuses on human genetics and genomics research, education, and policy. It offers health care providers continuing education credits, webinars, interactive workshops, and an annual meeting. - American College of Medical Genetics and Genomics (ACMG)
Provides clinical genetics, peer-reviewed journal articles, practice guidelines, policy statements, an online learning platform (offering CEUs and CMEs), and hosts an annual meeting (live and virtual). Also offers ACT Sheets, which are great resources for health care providers seeking information on genetic conditions to help inform clinical decision-making.
Risk Assessment and Decision Support Tools
- Ask2Me (All Syndromes Known to Man Evaluator™)
Calculates the risk of cancers associated with hereditary cancer predispositions gene mutations. Enter the age, the gene with a deleterious mutation, prior cancer history, and any prophylactic surgery. The results will best approximate the risk found in the literature. - National Office of Public Health Genomics (NCCN)
An office within the CDC that promotes the integration of genomics into public health research, policy, and practice to improve the lives and health of all people.
Databases and Clinical Resources
- ClinVar
A public database maintained by the National Center for Biotechnology Information that collects genetic variant information from laboratories, research studies, and expert panels outlining their clinical significance. This allows for better understanding and interpretability if the variant is benign, likely benign, uncertain significance (VUS), likely pathogenic, or pathogenic in relation to a disease. - GeneReviews
Expert-authored clinically relevant information on genetic conditions. Gene Reviews provides an Overview of a condition, clinical features, recommended diagnostic testing, management guidelines for affected individuals, genetic counseling considerations, and patient support resources. - Online Mendelian Inheritance in Men (OMIM)
A database that catalogs human genes and genetic disorders, including references to scientific literatures, molecular genetic details, and relevant resources. - Orphanet
A comprehensive database on rare diseases. It offers a directory of services like specialized clinics, laboratories, diagnostic testing information, and details on drugs designated for rare diseases, including their development status and availability. - National Comprehensive Care Network Guidelines
NCCN provides evidence-based clinical practice guidelines for cancer treatment, risk assessment, and management. Free registration is required. - Pharmacogenomics Knowledgebase (PharmGKB)
Curates knowledge about the impact of genetic variation on drug response for clinicians and researchers.
Educational Resources
- National Institutes of Health, National Human Genome Research Institute (NHGRI)
NHGRI offers various genetic resources, such as practice guidelines, a genetic glossary, and education opportunities. NHGRI also funds various genetic-focused research and educational endeavors. - GenomeEd (From NHGRI)
A free repository of high-quality genomics educational resources for group instruction or self-directed learning by health care professionals and educators. - Medline Plus
The National Library of Medicine created Medline Plus. It provides up-to-date information on various genetic conditions. - March of Dimes
As a healthcare provider, you may access March of Dimes' continuing education opportunities to learn how to improve babies' health by preventing congenital disabilities, premature birth, and infant mortality. - Genetic Alliance
Brings together diverse partners to create partnerships in advocacy, integrate individual, family, and community perspectives to improve health systems and revolutionize access. - Washington Medical Commission
Establishes, monitors, and enforces qualifications for licensure, consistent standards of practice, and continuing competency, now offering a five-part series designed to provide knowledge that will keep you abreast of the latest developments in the field of genetics.
Ethics, Policy, and Public Health
- ELSI Hub
A collaboration and dissemination hub for the field of study focused on the ethical, legal, and social implications (ELSI) of genetics and genomics funded by the National Human Genome Research Institute. It is managed by teams at Stanford and Columbia Universities in partnership with the Hastings Center and Case Western Reserve University. CERA convenes multidisciplinary partners to address emerging, high priority issues and provides the ELSIhub platform to enhance ELSI research's production, sharing, and use. - Genetic Policy Hub
The Genetic Policy Hub has resources related to genetics policy that impact the delivery of genetic services, Medicaid coverage, medical necessity, and webinars series. - Genetic Testing Registry
The Genetic Testing Registry is a database maintained by NCBI that provides comprehensive information on genetic tests including the test's purpose, conditions or genes tested, testing methodology, clinical validity and utility, testing laboratory, specimen source, and more. - Health Resources & Services Administration, Maternal and Child Health Bureau (MCHB)
The Genetic Services Branch of the MCHB facilitates the early identification of individuals with genetic conditions. It integrates them into systems of service and care that are accessible, available, affordable, acceptable, population—and community-based, culturally appropriate, and family-centered.
Newborn Screening and State Resources
- Newborn Screening Information Center (NBSIC)
Provides up-to-date information and resources about newborn screening. All newborn babies in the United States are screened for rare but serious health conditions. Screening helps identify babies conditions before they become sick. The NBSIC Washington lists all conditions that babies are being screened for in the state. - Office of Newborn Screening (Washington State Department of Health)
Tests infants born in Washington for certain treatable disorders that may not otherwise be detected before developmental disability or death occurs. Infants with these disorders typically appear normal at birth. The office's testing and follow-up services allow diagnosis before significant, irreversible damage occurs. - National Organization for Rare Disorders (NORD)
Supports clinicians and researchers so they can advance research and treatment that will enable people living with rare diseases to live healthier and fuller lives. NORD has information on over 140 rare diseases, collaboration opportunities, continuing medical education, and research opportunities. - National Coalition for Health Professionals Education in Genetics (NCHPEG)
A group of organizations committed to a national effort to promote health professional education and access to information about advances in human genetics. - Genetic Information Nondiscrimination Act (GINA)
Protects patients from discrimination based on a genetic diagnosis. However, GINA does not protect patients from being life, long-term care, or disability insurance providers. Certain groups are exempt, and GINA has several limitations. NCHPEG provides talking points to facilitate conversations with your patients. - National Society of Genetic Counselors
The National Society of Genetic Counselors provides a search engine for finding a genetic counselor near you. View a list of WA Genetics providers.
Find A Genetics Provider
- Find a Genetic Provider
The genetics program has a curated list of genetic providers in Washington state. Their location and contact information can be found on the genetic provider page. - The National Society of Genetic Counselors (NSGC)
A searchable directory of genetic counselors in the United States and Canada. You can search by location, name, area of practice or specialization, or by ZIP Code. - The American Board of Genetic Counseling (ABGC)
Has a worldwide searchable directory of certified genetic counselors. You can search by practice area, name, organization, or location. - The Canadian Association of Genetic Counsellors (CAGC)
Has a searchable directory of genetic counselors in Canada. You can search by name, distance from an address, province, or services.
Fact Sheets
Oral Health Fact Sheet for Dental Professionals: Adults with Down syndrome (Trisomy 21)
This publication outlines best practices for working with adults who have been diagnosed with Down syndrome (Trisomy 21).