Resources

Family History, Genetic Discrimination Laws, Family Support

Family History

Genetics and family history are becoming more and more important in all areas of healthcare. The information gathered from the family history may shape a person’s healthcare plan and/or suggest that genetic testing may be useful. “Knowing your family health history can save your life. The earlier you know which health conditions run in your family, the easier it is to develop prevention plans with your doctor.” –Dr. Richard H. Carmona, US Surgeon General

How do I Collect my Family Health History: What's Important?

Collect at least three generations of relatives. This means parents, children, siblings, nieces/nephews, aunts/uncles, cousins, and grandparents.
Write down any significant sickness, disease, or other health condition for each of these family members. Be sure to include birth defects, learning problems/delays, intellectual disabilities, and chronic health problems (for example: diabetes, thyroid disease, heart disease, cancer, Alzheimer’s disease). Sudden deaths should also be written down.
For each health problem, it is important to write down the age the person was first diagnosed.
Details on the type of disease are also important.
- For example, instead of recording “thyroid disease,” it is important to write down whether it was hyper- or hypothyroidism, or a nodule, cancer, etc.
- For family members with cancer, the type of tumor and where it was first found is important (ex. breast cancer that spread to the brain should be listed as breast cancer. Write down other important details if known, such as whether it was in one or both breasts, and the tumor type, such as adenocarcinoma).
- Heart disease is also a common health problem but there are many types, including coronary artery disease, structural defects, cardiomyopathies, arrhythmias, etc., so the more you can find out the better.

Once you have collected this information share it with your healthcare providers, your family members, and keep a copy in a safe place. Don’t forget to update it periodically!

Resources for family history collection:

US Surgeon General Family History Initiative: Access a web-based tool to create a family health portrait. HHS
Information on Family History from the Centers for Disease Control (CDC): Find fact sheets on family history, family history collection tools, brochures, podcasts, and public service announcements for healthcare providers. CDC
Promotion of Family Health History Awareness in the NYMAC region: this website provides resources to bring the discussion of family health history to families and their health practitioners in the communities in which they live and work. NYMAC Family History
Genetic Alliance Family Health History booklets: Does it run in the family? This tool helps individuals create free and personalized booklets to start conversations about health in the family and community. Family Health History

GENETIC DISCRIMINATION LAWS

Some individuals worry about their employers, their health insurance company, or other types of insurance companies using the information gained from genetic testing against them. Using the information in this manner is called genetic discrimination. Fortunately, there are federal laws (and in some cases state laws) in place designed to help protect individuals from genetic discrimination.

With this combination of laws, most New York State residents are well protected from genetic discrimination with regard to health insurance and employment. At this time, in New York State, these laws do not cover areas such as life insurance, disability insurance and long-term care insurance.

***Please note that laws may change over time and a Genetic Counselor will discuss the current regulations at the time of a consultation

Please see this overview of genetic discrimination legislation from the National Human Genome Research Institute for details on the specific protections provided: Genome Genetic Discrimination

Other Useful Links
Genetic Alliance resource on GINA: Genetic Information Nondiscrimination Act – Help

GINA information from the Department of Health and Human Services: The Genetic Information Nondiscrimination Act of 2008 – Information for Researchers and Health Care Professionals

FAMILY SUPPORT GROUPS

“When confronted by illness, patients seek professional help and advice from their doctors, and also rely on support from family members, peers and fellow patients. To this end several societies and organizations, specializing both in general health improvement as well as illness-specific objectives, offer support groups as integral components of treatment plans for patients with genetic disorders and for their families. These support groups may offer a variety of services, including educational materials, consultations, group therapy, team building activities, and other resources to teach individuals how to cope and adapt to the lifestyle that is often dictated by their illnesses.”
WHO Genomic Resource Center

Various national support group links are provided below. These resources can help you locate a support group for a specific condition.

Genetic Alliance, Inc.

The Genetic Alliance is your portal to learning about genetic support groups as well as locating disease specific information. Sharon Terry is CEO and President. Information can be accessed on their website: Disease Info Search to find support groups for various disorders, search for the condition of interest on the homepage and follow the link for that condition for medical information as well as details on support groups.

Other contact information:
Main office: (202) 966-5557
Fax: (202) 966-8553
info@geneticalliance.org

National Organization for Rare Disorders (NORD)

NORD is a “federation of voluntary health organizations dedicated to helping people with rare “orphan” diseases and assisting the organizations that serve them.” This organization makes available an extensive database of rare diseases and affiliated organizations. To find support organizations, visit their website at: Rare Diseases and click on the link “For Patients and Families” and choose “Find a patient organization”

Other contact information:
NORD
55 Kenosia Avenue
Danbury, CT 06810
Phone: 203-744-0100
Fax: 203-798-2291
Patients can contact NORD’s Patient Services Representatives at 1-800-999-6673

Genetic and Rare Diseases Information Center (GARD)

GARD is “a collaborative effort of two agencies of the National Institutes of Health, The Office of Rare Diseases Research (ORDR) and the National Human Genome Research Institute (NHGRI) to help people find useful information about genetic conditions and rare diseases.”

Tabs for medical information are available and patient advocacy groups can be found under “resources” and then “support for patients and families” GARD.

Other contact information:
The Genetic and Rare Diseases Information Center
P.O. Box 8126
Gaithersburg, MD 20898-8126
Fax: (301) 251-4911
Monday – Friday, 12:00 p.m. to 6:00 p.m. Eastern Time
(888) 205-2311 (Phone)
(888) 205-3223 (TTY)
(301) 251-4925 (International Telephone Access Number)

Global Genes and RARE-X

Global Genes and RARE-X have been working toward the goal of empowering the next generation advocate both through their individual initiatives and their strategic partnership formed in 2021. This merger creates a new milestone enabling the combined organization to provide the next generation of rare disease advocates the tools and resources needed to accelerate advocacy efforts and also support opportunities to drive research and therapy development.

More Information:

careaboutrare@globalgenes.org
28 Argonaut, Suite 150
Aliso Viejo, CA 92656
Phone: (+1) 949-248-RARE (7273)

Need to Contact Us? – RARE-X

1012 14th Street, Suite 500 – Washington, D.C. 20005