Referral Information for Providers

Indicators for Genetics Referral for Hereditary Breast Cancer

For a quick review of genetic testing for the BRCA1 and BRCA2 genes for Hereditary Breast and Ovarian Cancer and referral indications.

Frequently Asked Questions

More Information

BRCA1 and BRCA2 Testing and Risk Management Guidelines

About Genetic Testing for Breast and Ovarian Cancer


  1. Berliner JL et al (2007). Risk Assessment and Genetic Counseling for Hereditary Breast and Ovarian Cancer:  Recommendations of the National Society of Genetic Counselors. Journal of Genetic Counseling, 16:241-260.
  2. Centers for Disease Control and Prevention. Fact Sheet on Genetic Testing for Breast and Ovarian Cancer Susceptibility
  3. National Cancer Institute. Genetic Testing for BRCA 1 and BRCA 2: It’s Your Choice. Located June 112007 at
  4. Pinsky LE et al (2001). Why Should Primary Care Physicians Know About Breast Cancer Genetics?  Western Journal of Medicine, 175:168-173.
  5. Guidelines listed in above resource list.
  6. Weitzel JN et al (2007). Limited Family Structure and BRCA Gene Mutation Status in Single Cases of Breast Cancer. JAMA, 297(23):2587-2695.

Guidelines for Screening of Hereditary Colon Cancers

A personal or family history of:

  • Colon cancer before the age of 45,
  • Pre-cancerous polyps before the age of 40,
  • More than 20 pre-cancerous polyps
  • Uterine cancer before the age of 45
  • Three or more people in the family with colon, uterine, stomach or ovarian cancer
  • Confirmed genetic mutation in a relative.

Medicare Criteria for Genetic Testing for Lynch Syndrome

  • Personal History of Colorectal or Endometrial Cancer, plus one of the following:
  • 2 relatives with an HNPCC-associated cancer, plus all of the following:
    • + One must be a 1st degree relative of the other two; and
    • + At least two successive generations must be affected; and
    • + At least one of the relatives (or patient) should be diagnosed before age 50; and
    •  + FAP should be excluded in the colorectal cases
  • Has had a second HNPCC-associated malignancy 
  • Has a blood relative with a known HNPCC-related gene mutation
  • If MSI-H and/or IHC positive colon tumor

Medicare Criteria for Genetic Testing for FAP

Professional Genetic Societies

American College of Medical Genetics

Texas Society of Genetic Counselors

Texas Genetics Society

American Society of Human Genetics
Brings together investigators in the many areas of endeavor that involve human genetics, and to encourage and integrate their efforts by providing a forum for sharing research findings.

Genetic Alliance - The Genetic Alliance is an international coalition of individuals, professionals and genetic support organizations that are working together to promote healthy lives for everyone impacted by genetics.

National Coalition for Health Professional Education in Genetics (NCHPEG)
A resource of educational links to help health care professionals learn more about the field of genetics.

National Society of Genetic Counselors, Inc.
Represents the leading voice, authority and advocate for the genetic counseling profession.

U.S. Government Websites

United States Department of Health and Human Services
The Surgeon General’s office developed a computer tool called “My Family Health Portrait” to assist families in recording their family tree and medical illness.

Office of Genomics & Disease Prevention 
This site provides visitors with information about human genetic discoveries and how they can be used to improve health and prevent disease.

National Center for Health Statistics
NCHS is the Federal Government's principal vital and health statistics agency.

Genetics and Public Health in the 21st Century
Using Genetic Information to Improve Health and Prevent Disease.

Health Resources and Services Administration
HRSA assures the availability of quality health care to low income, uninsured, isolated, vulnerable and special needs populations and meets their unique health care needs.

Maternal and Child Health Bureau
MCHB provides leadership, partnership, and resources to advance the health of all our Nation's mothers, infants, children and adolescents-including families with low income levels, those with diverse racial and ethnic heritages and those living in rural or isolated areas without access to care.

National Institutes of Health
The goal of NIH research is to acquire new knowledge to help prevent, detect, diagnose, and treat disease and disability, from the rarest genetic disorder to the common cold.

National Human Genome Research Institute
NHGRI was originally established in 1989 as The National Center for Human Genome Research (NCHGR). Its mission is to head the Human Genome Project for NIH.

Online Mendelian Inheritance in Man
This database is a catalog of human genes and genetic disorders. The database contains textual information, pictures, and reference information.

US Census Bureau
The preeminent collector and provider of timely, relevant, and quality data about the people and economy of the United States.

Genetics Information

Genetic and Rare Conditions Site
Supplies an alphabetical listing of information on genetic conditions and birth defects to professionals, educators, or anyone interested in knowing more.

Genetics Education Center
For educators interested in human genetics and the Human Genome Project.

Genome Database
Established at Johns Hopkins University in Baltimore, Maryland, USA in 1990, the Genome Database (GDB) is the official central repository for genomic mapping data resulting from the Human Genome Initiative.

MendelWeb is an educational resource for teachers and students interested in the origins of classical genetics, introductory data analysis, elementary plant science, and the history and literature of science.

Genetic Alliance
The Genetic Alliance is an international coalition of individuals, professionals and genetic support organizations that are working together to promote healthy lives for everyone impacted by genetics.

National Organizations

American Association of University Affiliated Programs for Persons with Developmental Disabilities
A network of interdisciplinary Centers advancing policy and practice for and with individuals with developmental and other disabilities, their families, and communities.

American Academy of Pediatrics
A national organization for pediatricians.

National Birth Defects Prevention Network
The National Birth Defects Prevention Network (NBDPN) is a group of individuals involved in birth defects surveillance, research, and prevention.

External links to other sites are intended to be informational and do not have the endorsement of the Texas Department of State Health Services. These sites may not be accessible to persons with visual impairment.