Dig Deeper and Learn: Cancer Genetics

Breast Cancer 

Education: ACOG: BRCA1/BRCA2 Mutations FAQ | ACS: Breast Cancer | CDC: Breast Cancer | Sharsheret: Your Jewish Genes | Sharsheret: How Do I Tell My Children about My Cancer Gene? | Sharsheret: The Jewish Breast & Ovarian Cancer Community 

Guidelines: NCCN: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic Cancer | ASBS: Consensus Guideline for Genetic Testing for Hereditary Breast Cancer | ACOG: Practice Bulletin for Hereditary Breast and Ovarian Cancer | ACMG: Points to consider: is there evidence to support BRCA1/2 and other inherited breast cancer genetic testing for all breast cancer patients? | ASCO/ASRM/SSO: Management of Hereditary Breast Cancer

Colorectal Cancer 

Education: CDC: What is Colon Cancer? | ACS: Colorectal Cancer | Mayo Clinic: Colon Cancer 

Guidelines: NCCN: Genetic/Familial High-Risk Assessment: Colorectal Cancer | NCCN: Colorectal Cancer Screening | BJM Rapid Recommendations: Colorectal cancer screening with faecal immunochemical testing, sigmoidoscopy or colonoscopy: a clinical practice guideline | ACP: Screening for Colorectal Cancer in Asymptomatic Average-Risk Adults: A Guidance Statement from the American College of Physicians | CGA-IGC: Position statement on multigene panel testing for patients with colorectal cancer and/or polyposis

Ovarian Cancer

Education: ACOG: Ovarian Cancer FAQ | ACOG: Endometrial Cancer FAQ | CDC: Gynecologic Cancers  | National Ovarian Cancer Coalition 

Guidelines: NCCN: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic Cancer | NCCN: Genetic/Familial High-Risk Assessment: Colorectal Cancer | Society of Gynecologic Oncology: Risk Assessment for Inherited Gynecologic Cancer Predispositions

Pancreatic Cancer

Education: ACS: Pancreatic Cancer  | Mayo Clinic: Pancreatic Cancer | Pancreatic Cancer Action Network 

Guidelines: NCCN: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic Cancer | AGA Clinical Practice Update on Pancreas Cancer Screening in High-Risk Individuals: Expert Review

Pancreatic Cancer Surveillance Programs

Prostate Cancer

Education: ACS: Prostate Cancer | CDC: Prostate Cancer  | Prostate Health Education Network (PHEN) | Us Too  | Zero Cancer 

Guidelines: NCCN: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic Cancer | NCCN: Prostate Cancer | Implementation of Germline Testing for Prostate Cancer: Philadelphia Prostate Cancer Consensus

Stomach Cancer

Education: ACS: Stomach Cancer  | Mayo Clinic: Stomach Cancer  | NCI: Stomach Cancer  | No Stomach for Cancer 

Guidelines: NCCN: Genetic/Familial High-Risk Assessment: Colorectal Cancer

Uterine/Endometrial Cancer

Education: ACOG: Ovarian Cancer FAQ | ACOG: Endometrial Cancer FAQ | CDC: Gynecologic Cancers  | National Ovarian Cancer Coalition 

Guidelines: NCCN: Genetic/Familial High-Risk Assessment: Colorectal Cancer | Society of Gynecologic Oncology: Risk Assessment for Inherited Gynecologic Cancer Predispositions

Other Guidelines & Statements Related to Cancer Genetics

ACMG: Referral Indications for Cancer Predisposition Assessment

ASCO: Genetic and Genomic Testing for Cancer Susceptibility 

CDC: Applications for Hereditary Breast and Ovarian Cancer

Lynch Syndrome

ACOG: Practice Bulletin for Lynch Syndrome

ASCRS: Surgical Treatment for Patients with Lynch Syndrome

CDC: Applications for Lynch Syndrome

Rare Cancer Syndrome

Dig Deeper and Learn: Prenatal Genetics

Prenatal Genetic Screening

ACOG: Prenatal Genetic Screening FAQ | ACOG: Prenatal Genetic Diagnosis Tests FAQ  | Cooper Genomics: Preimplantation Genetic Diagnosis (video)* | Myriad: Prenatal Genetic Screening Patient Education (video) | Victor Center: Jewish Genetic Diseases 

Extended Carrier Screening

ACOG: Carrier Screening FAQ | “New ACMG Guidelines for Expanded Carrier Screening with Barbara Harrison and Katie Stoll.” October 11, 2021. The Beagle Has Landed. (podcast)

Newborn Screening

Baby’s First Test

Trisomy

NORD: Trisomy 13 Syndrome | GHR: Trisomy 13 | NORD: Trisomy 18 Syndrome | GHR: Trisomy 18 | GHR: Down Syndrome | National Down Syndrome Society |Trisomy 18 Foundation | SOFT 

Cystic Fibrosis

ACOG: Cystic Fibrosis FAQ | Claire’s Place Foundation (Cystic Fibrosis) | Cystic Fibrosis Foundation | CysticFibrosis.com 

Fragile X Syndrome

NORD: Fragile X Syndrome | GHR: Fragile X Syndrome | CDC: What is Fragile X Syndrome? | National Fragile X Foundation | Xtraordinary Joy 

Spinal Muscular Atrophy (SMA)

NORD: Spinal Muscular Atrophy | GHR: Spinal Muscular Atrophy | MDA: Spinal Muscular Atrophy | Cure SMA | Together in SMA 

Hemoglobinopathies

CDC: Sickle Cell Disease | CDC: Thalassemia | GHR: Alpha Thalassemia | GHR: Beta Thalassemia | CDC: Hemoglobinopathies Project

Guidelines for Prenatal Genetics

ACOG: Practice Bulletin on Screening for Fetal Chromosomal Abnormalities
NSGC: Prenatal Cell-free DNA Screening
ACMG: Noninvasive Prenatal Screening for Fetal Aneuploidy (2016 Update)
ACOG: Carrier Screening in the Age of Genomic Medicine
ACOG: Carrier Screening for Genetic Conditions
ACMG: Position Statement on Prenatal/Preconception Expanded Carrier Screening
ACMG: Carrier Screening of individuals of Ashkenazi Jewish descent
ASRM: Pre-pregnancy Counseling
ACOG: Microarrays and Next-Generation Sequencing: The Use of Advanced Genetic Diagnostic Tools in Obstetrics and Gynecology
ACOG: Practice Bulletin on Prenatal Diagnostic Testing for Genetic Disorders
ACMG: Statement on Guidance for Genetic Counseling in Advanced Paternal Age 

Dig Deeper and Learn: Rare Disease Genetics

Rare Genetic Conditions

Global Genes: RARE List
NIH: Rare Disease FAQ
NORD: Rare Disease Database
Face2Gene

Cardiovascular Genetics

NIH: Familial HCM | NIH: Familial TAAD | NIH: Familial Atrial Fibrillation | NIH: Brugada Syndrome | NSGC: Cardiovascular Genetics Pocket Guide | NSGC: Am I at Risk for Heart Disease 

Guidelines related to Cardiovascular Genetics

ACC: Guideline for Management of Patients With Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death
ACC: Guideline for the Diagnosis and Treatment of Hypertrophic Cardiomyopathy
ACC: Guideline for the Management of Adults With Congenital Heart Disease
ESC: Familial Hypercholesterolemia and guidance for clinicians to prevent coronary heart disease
CDC: Applications for Familial Hypercholesterolemia
ESC: Guidelines on the diagnosis and treatment of aortic diseases 

Dig Deeper and Learn: At-Home Genetic Testing

At-Home DNA Testing

ACMG: Position Statement on Direct-to-Consumer Genetic Testing
“Direct-to-consumer genetic testing,” BMJ 2019;367:l5688
FTC: Direct to Consumer Genetic Tests
NSGC: Position Statement on Direct Access to Genetic Testing
Grey Genetics: What Can Your 23andMe Reports Tell You about Your Colorectal Cancer Risk?
Grey Genetics: What Can Your 23andMe Reports Tell You about Your Breast Cancer Risk?
Grey Genetics: You Have a Right to Your Data, but is it Really Your Data if it’s Inaccurate?
From Watershed DNA: A Brief Note about Diabetes Risk Report from 23andMe
Watershed DNA: Non-medical Direct-to-Consumer Genetic Testing Support 

Grey Genetics Services related to At-Home DNA Test Services

At-Home DNA Test + Family History Review

Raw Data Report + Family History Review

Genetics Consult & Review of At-Home DNA Test Results

General Cancer Support

A Fresh Chapter

Breast Cancer Support

Breastcancer.org | FORCE | HIS Breast Cancer | Male Breast Cancer Coalition | M.Elia Wellness LLC (Health and Wellness Coach for women with hereditary Breast Cancer) | Sisters Network Inc | Young Survival Coalition 

Colorectal Cancer Support

Colorectal Cancer Alliance | Fight Colorectal Cancer

Rare Genetic Conditions Support

Ben’s Friends | Global Genes | Huntington’s Disease Society of America | NORD | SWAN USA | Fanconi Anemia Research Fund | Cerebral Palsy Guide

Cardiovascular Genetics Support

Adult Congenital Heart Association | Genetic Aortic Disorders Association of Canada | Hypertrophic Cardiomyopathy Association | Marfan Foundation | Sudden Arrhythmia Death Syndrome

Direct To Consumer (At Home DNA Test Kits) Support

The DNA Guide For Adoptees | Watershed DNA

Family History Information 

CDC: Family Health History

NIH: Why is it important to know my family medical history?

Tools for Collecting Family Health History 

FamGenix

Surgeon General: My Family Health Portrait

NIH: Families SHARE

Family HealthLink

TapGenes

Discussing Family Health History & Diagnoses with Children 

Proactive Genes

Adoptee and Unexpected Results Resources

WatershedDNA

Research Opportunities 

All of Us — A National, NIH-led effort to gather data from one million or more people living in the United States to accelerate research and improve health. Open to anyone who currently lives in the United States.

The UBC Genetic Connections Study — A survey-based study on individuals’ experiences with direct-to-consumer genetic testing. Open to anyone who has purchased a direct-to-consumer genetic testing kit or is at any stage in the testing process. 

The New York Stem Cell Foundation — An opportunity for volunteers to contribute to stem cell research. Must visit Manhattan location to provide a sample. 

The Genomic Services Research Program (GSRP) — A new NIH study recruiting people who received unexpected genetic test results about their risk for cancer, heart disease, and other conditions after having genetic testing done for some other reason.

ClinicalTrials.Gov — A database of privately and publicly funded clinical studies conducted around the world.

GenomeConnect — An online registry designed by the (ClinGen) for people who are interested in sharing de-identified genetic and health information to improve understanding of genetics and health. Open to anyone who has had genetic testing, is considering testing, or has a family member that has had testing, regardless of test results or diagnosis. Provides opportunity to connect with other individuals and families as well as the potential to learn about new research opportunities.