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Summary of Workgroup Discussions

Background

  • Family history is an important risk factor for both single-gene disorders and complex common diseases for which genetic causes are poorly understood.

  • Family history information identifies not only shared genetic risks but also shared environmental, behavioral, and cultural factors that can affect risk.

Current Use of Family History Information

  • For pediatric patients, family history can be collected by parents or by several family members and compiled. Children can be encouraged to get involved in taking their family history.

  • Questionnaires can be filled out by mail, by phone, online, or during an office visit. Information gathered beforehand can guide the visit.

  • Questions can be open-ended, checklists, or specific to a disease. Closed-ended questions that ask about conditions systematically have been recommended. But open-ended questions that allow for discussion with clinicians might be better for potentially stigmatizing conditions, such as psychiatric disorders.

  • Barriers include lack of clinician time or training to interpret family history, lack of reimbursement, and inaccurate or incomplete family history information. Both clinicians and the public need to be educated about the importance of family history.

Model Family History Tools

  • Family Healthware is a self-administered, Web-based tool for collecting family history and assessing risk. It was developed by the National Office of Public Health Genomics and CDC’s Division of Cancer Prevention and Control. A one-page summary reports the person’s level of family history risk for six common conditions and recommends that he or she discuss results with a clinician. This tool is being evaluated and is not yet available to the public.

  • My Family Health Portrait, from the U.S. Surgeon General, collects information on a person’s relatives and draws a pedigree showing the different conditions present in the family. It does not assess risk or give personalized prevention tips.

  • First PAGE is a one-page, self-administered questionnaire that focuses on prenatal health care. It deals mainly with single-gene disorders. Each question screens for the potential presence of a disorder for which a diagnostic test is available. Clinicians using First PAGE have reported greater confidence in talking about genetics issues, assessing risk, and dealing with genetic risks earlier in pregnancy.

Potential Model Conditions for Use of Family History

The workgroup discussed conditions that might be models for using family history. These conditions included:

  • Single-gene disorders—cystic fibrosis, autosomal-dominant polycystic kidney disease, and fragile X syndrome

  • Common complex conditions—birth defects and coronary artery disease


The conditions were evaluated using the ACCE framework, which looks at four factors:

  • Analytic validity—Are family history reports correct and reliable?

  • Clinical validity—How well does family history predict disease risk?

  • Clinical utility—Do awareness of family history risk and targeted interventions affect outcomes?

  • Ethical, legal, and social issues—Are there treatments for identified conditions? Are there concerns about privacy, stigmatization, or discrimination? Might cultural issues affect whether conditions are reported?


Conditions to be included in a family history tool should also present a substantial public health burden and have a well-defined case definition, be something relatives are aware of and accurately report, have evidence that family history is an independent risk factor, and have existing interventions that can prevent or reduce the condition.

Future Considerations

  • Conditions to be included in family history tools must be chosen carefully.

  • Family history tools should address clinicians’ lack of time; allow for easy updating; be modular in format, asking questions about each family member individually; and have closed-ended questions with systematic inquiries about conditions.

  • Family history tools that provide risk assessments are needed. Tools that suggest conditions consistent with a given family history would also be helpful.

  • Use of the Internet in health care services will aid in collecting family history information, creating pedigrees, and educating patients and clinicians.

  • Family histories could be dynamic, with links to medical reports, lab studies, and imaging studies of other family members to provide constant updating, assuming all relatives provide informed consent.

  • Combining information from different systems will require nationally or internationally accepted data standards. This will ensure that family history information shared between different health care entities can be clearly understood by all.

  • Public interest in family history can increase accuracy of reporting and move clinicians to add it into their practices. Discussing the importance of family history could prompt patients to learn more about family members with whom they do not have contact and might even act as a unifying force in extended families.

For More Information

For more information, please see the following Pediatrics supplement article:

Summary of Workgroup Meeting on Use of Family History Information in Pediatric Primary Care and Public Health

 

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