Genetic Resources
The Genetic Resource Directory list resources that provide help and support for families during their genetic journey. For other organizations that help with community life and transitioning to adulthood or another diagnosis, please visit our directory.
Resources for Families
Genetic Services
What are Genetic Services?
- Description of Genetic Services
Find a Genetic Professional
- American College of Medical Genetics
- American Society of Human Genetics
- International Society of Nurses in Genetics
- National Society of Genetic Counselors
Resources
Baby's First Test - For more than 50 years, infants born in the U.S. have been screened for an increasing number of congenital conditions, yet parents are often unaware of the availability and need for newborn screening. Baby’s First Test increases awareness of newborn screening and improves the understanding and informed decision-making capacity of expectant and new parents, health professionals, industry representatives, and the public.
Genetic Alliance - The world’s leading nonprofit health advocacy organization committed to transforming health through genetics and promoting an environment of openness centered on the health of individuals, families, and communities. Genetic Alliance’s network includes more than 1,000 disease-specific advocacy organizations, as well as thousands of universities, private companies, government agencies, and public policy organizations. The network is a dynamic and growing open space for shared resources, creative tools, and innovative programs.
Genetic Alliance Disease InfoSearch - This site provides an alphabetical list of specific genetic diseases, with links to support groups and public databases that have information on that disorder.
Genetics Home Reference: Your Guide to Understanding Genetic Conditions - Genetics Home Reference, a service of the National Library of Medicine, provides consumer-friendly information about the effects of genetic variations on human health. It includes sections on genetic conditions, newborn screening, genes, and chromosomes, plus a handbook, glossary and resources.
NewSTEPs - A national newborn screening resource center designed to provide data, technical assistance and training to newborn screening programs and assist states with quality improvement initiatives.
Preconception Healthcare - Preconception health refers to the health of women and men during their reproductive years, which are the years they can have a child. It focuses on taking steps now to protect the health of a baby they might have sometime in the future.
Individual Healthcare Plans (IHPs)
What is an IHP?
Individual healthcare plans are written plans used in the school setting to communicate about a student’s health condition and their care/accommodations. IHPs are used for a variety of health conditions. They are not dependent on the type of health condition, but rather the need for staff knowledge of the condition as well as the need for intervention in the school setting.
How to Begin
- Contact your child’s school nurse or administration.
- Coordinate with your child’s healthcare provider.
- Work with the school to set up an IHP planning meeting.
IHP Overview Slide Presentation
English Families
Spanish Families
- Formulario de informacion del padres/ Parent Information Form
- Formulario de informacion del estudiante/ Student Information Form
Marshallese Families
- Pepa in Melele ko jen Mama Papa/ Parent Information Form
- Pepa in Melele ko jen Rijikuul/ Student Information Form
Healthcare Plan Toolkit
Education
Tips Treating Marshallese Patients
- Disproportional Transient C3 Elevations on Marshallese Newborn Screenings: What do these mean?”
- Quick Tips for Providers Serving Marshallese Patients and Clients
Genetic Testing Toolkit
- Getting the Best Out of Prior Authorizations and Letters of Medical Necessity
- Patient Glossary for Terms Related to Insurance Coverage
- Prior Authorization Process
- How to do a Prior Authorization
- What needs to be in a Letter of Medical Necessity
- Sponsored Testing List
- Letter of Medical Necessity General Template
- Letter of Medical Necessity for Whole Exome Sequence (WES)
- Letter of Medical Necessity Template for WGS + WES
- Letter of Medical Necessity Template for Chromosomal Micro Array
Support Educational Resources
- Newborn Screening Brochure in Marshallese (PDF)
- Early Hearing Detection and Intervention in Marshallese (PDF)
- Fact Sheets for MPS and ML
- Spanish Newborn Screening Video
- Spanish Genetic Services Video
- Spanish Interpreter Video
- Spanish What are Chromosomes and Genes Video
- Marshallese Newborn Screening Video
- Family Navigation for the Marshallese Community
- Marshallese Newborn Baby's Hearing Test Video
Patient Resources
Cancer
Pretest
- Cancer in Children
- Do My Genes Impact my Risk for Prostate Cancer?
- Familial Hypercholesterolemia
- Genetic Counseling Helps Families Understand Their Options
- Is Lung Cancer Genetic?
- Lynch Syndrome Explained by a Genetic Counselor
- Male Breast Cancer Support
- Patient's Guide to Ovarian Cancer
- Should I Get Genetic Testing for Melanoma?
- What Is Hereditary Cancer? What Is A Hereditary Cancer Mutation?
- What is Panel Genetic Testing? | Dana-Farber Cancer Institute
- Your Guide to Sharing Genetic Test Results with Relatives
During Genetics Evaluation
- Bone Marrow Transplant and the Role of the Genetic Counselor
- Genetic Testing For Inherited Risk For Cancer
- How Does Family History Impact My Risk for Diabetes?
- What is Leukemia?
- What is Leukemia? By Cincinnati Children's
Post Test
Care Process
Pretest
- #103 Brianne Kirpatrick on Adoptee Genetics
- #131 DTC Series Libby Copeland on Law Enforcement Use of Genetic Databases
- Part 1: Components of the Healthcare System
- Part 2: Types of Patient Care and the Healthcare Team
- Part 3: Types of Health Insurance
- Part 5: Your Role as a Patient
- Spanish Language Genetic Counseling: Research and Resources
Post Test
- Care for the Caregiver
- Caregiver 101
- Caring for Yourself While Caring for Your Child
- Choosing Types of Care: Palliative, Hospice, and Bereavement
- Coping with Grief and Loss
- Creating Your Advanced Directive
- Financial Matters
- Genetics, Disease Prevention and Treatment FAQ
- Hospice Care
- In-home therapy during Covid-19 pandemic
- Navigating Caregiving Resources
- Palliative Care
- Part 4: Understanding Medical Bills
- Preparing for Being a Caregiver
- Self-Love with Megan Logan, MSW, LCSW
- Spanish Language Genetic Counseling: Research and Resources
- Your Guide to Sharing Genetic Test Results with Relatives
Genetic Conditions
Pretest
- #170 Mitochondrial Disorders with Alejandro Dorenbaum
- #236 Assessing for Alzheimer's Disease with Quest Diagnostics
- #247 Duchenne Muscular Dystrophy: Exon Skipping
- All Things Thalassemia
- Disorders of Sex Chromosomes
- DOH GSF Conditions
- How Does Family History Impact My Risk for Diabetes?
- Trisomy 13 and 18 - Pediatric Genetics
- What is Sickle Cell Disease?
- What is Down Syndrome (Trisomy 21?)
During Genetic Evaluations
- Fragile X Syndrome (FXS) 10 Things You Did Not Know
- Fragile X Syndrome: Guide for Parents
- Fragile X Syndrome - An Overview for Families and Providers
Post Test
Genetic Counseling Process
Learning About Genetics
Neurodevelopment
Pediatrics
Pre Test
During Genetics Evaluation
Prenatal
Pretest
- #133 DTC Series: Melanie Hardy on Carrier Screenings
- 18-22 Week Ultrasound Results
- Carrier Screening
- Carrier Screening Patient Education Animation
- DOH GSF Conditions
- Genetic Testing and Pregnancy: A Genetic Counselor Guides You Through Your Testing Options
- How to Decide About Prenatal Genetic Testing
- NEWBORN SCREENING: What is it about? What does a POSITIVE SCREENING TEST mean? | Dr. Kristine Kiat
- Prenatal Genetic Testing Options
During Genetic Evaluation
Post Test
Revisiting Genetics
- #119 Infertility Series: Lauren Isley on Fertility Genetic Counseling
- #120 Infertility Series: Baileys on Reciprocal IVF Part 1
- #121 Infertility Series: Baileys on Recipricol IVF Part 2
- #123 Infertility: Dr. Kara Goldman on Fertility Testing
- #124 Infertility Series: Jennifer Eccles on PGT for Polygenic Conditions
- #125 Infertility Series: Nick Charles on Controversies
Understanding Genetic Testing
- #103 Brianne Kirpatrick on Adoptee Genetics
- #105 Secret Sequence on Genetic Privacy
- #108 Dr. Becky Winslow on Pharmacogenomics
- #116 DNA ALLY on Direct to Consumer Genetic Testing
- #127 DTC Series: Jeanette McCarthy on the Industry
- #129 DTC Series: Picture Genetics on At-Home, Physician-Mediated, Genetic Testing
- #131 DTC Series Libby Copeland on Law Enforcement Use of Genetic Databases
- #170 Mitochondrial Disorders with Alejandro Dorenbaum
- #238 Secondary Findings with Caralynn Wilczewski and Andrea Alvarez
- #251 Diversifying Genetic Research with 23andMe
- Carrier Screening
- Carrier Screening Patient Education Animation
- Chromosomal Microarray: Test Information for Families
- DNA Today Podcast Lesson 17: Chromosome Microarray Analysis (CMA): A Cytogenetic Analysis
- Genetic Carrier Screening
- Genetic Discrimination and GINA: Will Genetic Testing Affect My Insurance?
- Genetic Testing
- Genetic Testing and Pregnancy: A Genetic Counselor Guides You Through Your Testing Options
- NEWBORN SCREENING: What is it about? What does a POSITIVE SCREENING TEST mean? | Dr. Kristine Kiat
- Prenatal Genetic Testing Options
- Spanish Language Genetic Counseling: Research and Resources
- What is Genetic Counseling and Genetic Testing?
- What to Expect at Your Genetics Appointment?
- What is Panel Genetic Testing? | Dana-Farber Cancer Institute
- Whole Exome Sequencing
Provider Resources
Cancer
Pretest
- Is Lung Cancer Genetic?
- Lynch Syndrome Explained by a Genetic Counselor
- Should I Get Genetic Testing for Melanoma?
During Genetics Evaluation
Care Process
Pretest
- #131 DTC Series Libby Copeland on Law Enforcement Use of Genetic Databases
- Clinical, Technical, and Environmental Biases Influencing Equitable Access to Clinical Genetics/Genomics Testing: A Points to Consider Statement of the American College of Medical Genetics and Genomics (ACMG)
- NIPT Summary of Recommendations
- Noninvasive Prenatal Screening (NIPS) for Fetal Chromosome Abnormalities in a General Risk Population: An Evidence-Based Clinical Guideline of the American College of Medical Genetics and Genomics (ACMG)
- Spanish Language Genetic Counseling: Research and Resources
During Genetics Evaluation
Post Test
Learning About Genetics
Pretest
During Genetics Evaluation
- Epigenetics Influencing Health Outcomes (Methylation Animation)
- Understanding the Relationship Between Cancer and Genetics
Post Test
Prenatal
Pretest
- #133 DTC Series: Melanie Hardy on Carrier Screenings
- Beyond the Brochure: Innovations in Clinical Counseling Practices for Prenatal Genetic
- Screening and Diagnosis of Mental Health Conditions During Pregnancy and Postpartum
During Genetic Evaluation
Post Test
Revisiting Genetics
Provider Guidelines
Pre Test
- Clinical, Technical, and Environmental Biases Influencing Equitable Access to Clinical Genetics/Genomics Testing: A Points to Consider Statement of the American College of Medical Genetics and Genomics (ACMG)
- Clinical Genetic Counseling and Translation Considerations for Polygenic Scores in Personalized Risk Assessments: A Practice Resource from the National Society of Genetic Counselors
- Expanded Carrier Screening for Reproductive Risk Assessment: An Evidence-Based Practice Guideline from the National Society of Genetic Counselors
- NIPT Summary of Recommendations
- Noninvasive Prenatal Screening (NIPS) for Fetal Chromosome Abnormalities in a General Risk Population: An Evidence-Based Clinical Guideline of the American College of Medical Genetics and Genomics (ACMG)
- Screening and Diagnosis of Mental Health Conditions During Pregnancy and Postpartum
Other
Genetic Conditions
Learning About Genetics
Pediatrics
Understanding Genetic Testing
Pretest
- #105 Secret Sequence on Genetic Privacy
- #108 Dr. Becky Winslow on Pharmacogenomics
- #127 DTC Series: Jeanette McCarthy on the Industry
- #129 DTC Series: Picture Genetics on At-Home, Physician-Mediated, Genetic Testing
- #131 DTC Series Libby Copeland on Law Enforcement Use of Genetic Databases
- Clinical Genetic Counseling and Translation Considerations for Polygenic Scores in Personalized Risk Assessments: A Practice Resource from the National Society of Genetic Counselors
- DNA Today Podcast Lesson 17: Chromosome Microarray Analysis (CMA): A Cytogenetic Analysis
- Expanded Carrier Screening for Reproductive Risk Assessment: An Evidence-Based Practice Guideline from the National Society of Genetic Counselors
- Selecting the Right Genetic Test
- Spanish Language Genetic Counseling: Research and Resources
- Whole Exome/Whole Genome Testing: Comparison to Panels
Telegenetics
Telehealth Resource Centers
- National Consortium of Telehealth Resource Centers (NCTRC)
- If you’re looking for resources specifically for genetic providers and families seeking genetics services, visit the National Coordinating Center’s Telegentics webpage.
