Resources For Your Patients
Family History Tools for Patients
My Family Health Portrait
This tool from the Surgeon General provides patients and family members with a resource to collect their family health history information and has the ability to turn it into a pedigree that they can in turn bring to their primary care provider. Another feature of this tool is that it enables patients to share their information with other family members.
Family Health History Record Keeper – Brochure
This brochure from the Illinois Department of Public Health is a printable tool that providers can use to communicate with their patients about the importance of gathering family history and provides them a place to write the information down.
Does It Run In the Family? Toolkit
This downloadable, printable, customizable tool, created by Genetic Alliance and their partners, encourages individuals to collect their family health history information in order to increase knowledge and communication regarding health. Genetic Alliance offers a collection of resources ranging from customizable booklets to tips for patients on collecting health history information from their family members.
Family History is Important for Your Health - Fact Sheet
These consumer fact sheets from the Centers for Disease Control and Prevention are available in both English and Spanish and provide information on the importance of family history.
Genetic Testing Information for Patients
Newborn screening tests take place before every newborn leaves the hospital. In every U.S, state, babies are tested to identify serious or life-threatening conditions before symptoms begin. These tests mostly involve a few drops of blood from the baby’s heel and a simple hearing test.
If a screening test suggests a problem, the baby's doctor will follow up with further testing. If those tests confirm a problem, the doctor may refer the family to a specialist for treatment. Following the doctor's treatment plan can save your baby from lifelong health and developmental problems.
Baby's First Test has been established as the nation's newborn screening clearinghouse to provide current educational and family support and services information, materials, and resources about newborn screening at the local, state, and national levels.
March of Dimes: Newborn Screening
This page from the March of Dimes provides an overview explaining the process and purpose of newborn screening and testing, as well as addresses commonly asked questions. Also available are two videos, "A Parent's Guide to Newborn Screening" and "Newborn Screening: A Personal Story."
National Coordinating Center for the Regional Genetic and Newborn Screening Collaboratives
There are seven Regional Genetic and Newborn Screening Collaboratives (RCs), which are coordinated by a National Coordinating Center (NCC).
The NCC provides the resources to assist consumers and their families in accessing information about genetic services and resources at a national level. For individual state and region information, beyond the genetic services directory, please visit your regional collaborative website.
Save Babies Through Screening Foundation
This Foundation aims to educate the public about available comprehensive newborn screening and the importance of prompt follow up.
Genetic Testing Information
Informed Consent for Genetic Testing: Patient Education Information for use with the Michigan Model Consent Form for Genetic Testing. The Michigan Department of Community Health has compiled a handout to answer patient questions about genetic testing.
The Federal Trade Commission (FTC) works to protect consumers and promote truth in advertising. The FTC offers a fact sheet for consumers about the benefits and risks of at-home genetic tests.
Genetic Patient Information
While the goal of the Genetics in Primary Care Institute is primarily to provide education and resources for health professionals, the following information may be useful for patients and families, particularly those affected with a genetic condition.
Genes in Life is a Web site from Genetic Alliance that aims to answer questions about health and genetics with the goal of educating people about all the aspects of life in which genetics plays a role and making a positive difference in the way patients and families approach health.
Ask the Geneticist
This Web site posts answers to questions from the public about genetic concepts and the etiology, treatment, research, and testing of and predisposition to genetic disorders. This resource was developed by Emory University Department of Human Genetics and University of Alabama at Birmingham Department of Genetics.
Understanding Genetics: A Guide for Patients and Health Professionals—produced as a partnership between the Genetic Alliance and the New England Public Health Genetics Education Collaborative—provides a basic overview of information on:
- Genetics 101
- Diagnosis of a genetic disease
- Pedigree and family history taking
- Newborn screening
- Genetic counseling
- Indications for a genetic referral
- Ethical, legal, and social issues
- Patient fact sheets, stories, and local (New England) resources and services
As part of the University of Utah’s Genetic Science Learning Center, this Web site contains educational materials on genetics aimed at the public. An animated tour outlines the basics of genetics, a genetic disorders library, and information on heredity of traits.
Know Your Genes
This resource from the Genetic Disease Foundation is designed to provide patients and families with information to gain a general understanding of genetic topics such as preconception planning, family history, and genetic testing.
This family-friendly Web site includes information about rare chromosomal disorders only. This site also provides specific cytogenetic variation leaflets written in English, German, Spanish, French, and Italian.
Genetic Patient Support
Directory of genetic support groups and assistance for consumers and professionals in identifying support groups, self-help groups, community organizations, information resources, clinical research studies, and genetics centers. This resource has been developed and is maintained by Genetic Alliance.
Genetic and Rare Disease Information Center
Experienced specialists are available to answer questions (in English or Spanish) from consumers, health professionals, and biomedical researchers. This center is part of the Office of Rare Diseases Research in the National Center for Advancing Translational Sciences at the National Institutes of Health.
Genetics and Rare Conditions
This site provides links to lay advocacy groups, support groups, and information on genetic conditions and birth defects for professionals, educators, and consumers. It was developed by the University of Kansas.
National Organization for Rare Disorders
This site is comprised of three searchable databases (Index of Rare Diseases, Organizational Database, and Orphan Drug Database).
Risk Assessment and Patient Communication
Discussing Family History Information
When obtaining family history information from your patients, even when using a standardized collection form, it is important to review the information with your patients. In pediatric primary care, emphasize that the information about the health of the child and family members will ensure that the best care is provided to the families. Families share the same genes, environments, and often the same lifestyle/habits, so health problems are also commonly shared as well.
- “Do your (brothers, sisters, mother, father) have any health problems?
- “Are all your children with the same partner?”
- “Do you share the same mother and father with your siblings?”
- “Is there a possibility that you and your partner/spouse are blood related?”
- “Are there any family members with intellectual impairment or severe learning disabilities?”
- “Are there any family members who had health problems from birth (for example, of the hands or feet, spine, heart)?”
- “How much alcohol did you use during pregnancy?”
- “What medications did you take during pregnancy?”
- “Do you know your ethnic background?”
- “Are there any other conditions that run in your family?”
- “Do you have any concerns about a condition that may be genetic/that runs in your family?”
Strategies for Communicating Aspects of Family History
- Avoid communicating the terms “positive”, “negative”, “uneventful” to the patient
- Use the term “condition” as opposed to “disorder”
- “Thank you for answering my questions regarding the health of your family. Your family history is remarkable for __ on the maternal/paternal side of your family.”
- For a known genetic condition within family, obtain additional information:
- “I understand that you have a family history of __. “
- “What do you know about this condition?”
- “Have you had a genetic evaluation for this condition?”
- “Do you know if you are a carrier for this condition?”
- “This is a genetic condition which can be inherited from parents. In order to determine if your child is at risk I would suggest we seek advice from a medical geneticist.”
- For a child patient affected with a known genetic condition:
- “What do you know about this condition?”
- “How was this condition diagnosed?”
- “Did your child have genetic testing?”
- “Has your child been seen by a medical geneticist?”
- “How has this affected your family”?
- “What questions do you have about this condition?”
- “Would you be interested in seeing a medical geneticist for your child?”
- For a child affected with a genetic metabolic condition :
- “Who is the metabolic geneticist following your child?”
- “When was the last time your child was seen by the metabolic geneticist?”
- “Do you know what to do when your child is having an illness?”
- “Did you receive an emergency plan from your metabolic geneticist?”
Many pediatric care providers find it difficult to broach the subject of a genetic referral. They are often concerned that these discussions will cause great parental anxiety and that families may resist going for the needed evaluations. Below are some strategies that may be helpful in beginning the dialogue about the referral.
Talking to Patients/Families about a Genetic Referral
- Mention that the diagnosed condition is thought to have a positive genetic link. This means that we can possibly identifying a change in the DNA that caused this condition, which will help us know more information about the prognosis for the patient, and how this could impact the family.
- “On my exam today I see _X finding__. I want to be sure there isn’t a genetic connection and, in order to be thorough, I am recommending that we seek the advice of a geneticist.” (Beth Pletcher, MD, FAAP, FACMG)
- “_Jonny/Joanie__ has been diagnosed with __(a learning disorder/autism/developmental delays)__ and I would like to see if we can identify a possible cause for these difficulties. Therefore I am suggesting that _Jonny/Joanie_ be seen by a geneticist.” BAP
- “In order to address your question, I would like to refer to Medical Genetics.” (John Moeschler, MD, FAAP, FACMG)
- “In order to best care for your child, I would like Medical Genetics to help me with the following question: ______?” JM
- “I understand you are not concerned, but in order to provide best care, I need __ from Medical Genetics.” JM
Before undergoing genetic testing, providers should counsel patients about the risks and potential results of genetic tests. Review the genetic testing page for more information about the potential results of testing.
Providers are encouraged to review the possible ethical, legal, and social implications of genetic testing. Understanding these implications will better assist providers in having sensitive discussions with their patients regarding genetics.
Primary care providers should become aware of financial implications of genetic tests and understand how to advocate for reimbursement of certain genetic tests to avoid unnecessary financial burden for their patients.
NCHPEG Communicating Risk Fact Sheet
Delivering Difficult News
Frances P Glascoe, PhD
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