Abstract
As research on the genetic basis of disease builds our medical knowledge base, new developments in clinical genetics should also reach the patients whose health may benefit from such knowledge. Although primary care physicians and other healthcare providers usually act as the gateway to genetic consultation or testing, many providers have minimal formal training in genetics or otherwise may not be up-to-date in the field. Thus, they may not know when to refer a patient for genetic services.
To assist physicians and other healthcare providers in assessing whether a patient would benefit from genetic consultation, we have developed a series of web-based genetic screening questionnaires for use in primary care settings and obstetrics practices. The questionnaires provide a simple interactive format easily answered by the patients. The automated questionnaires then return an email message to the referring physician or healthcare provider and to the patient with a recommendation about the appropriateness of genetic consultation.
To test the acceptance by patients and providers of web-based genetic screening, we conducted a pilot study in a primary care setting linked to a major medical center. The patients who use this clinic represent all socioeconomic levels and racial and ethnic groups. The pilot study included twenty-five obstetric patients and twenty-five patients seen for other reasons. After the patients submitted their genetic screening questionnaires, they also completed separate questionnaires evaluating their experience. All medical personnel completed analagous questionnaires evaluating their experience with the overall process. The results of the study will be discussed.
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Neidich, J., Taswell, C. & Daniels, K. Interactive web-based genetic screening questionnaires in a primary care and obstetrics practice: A pilot study. Genet Med 2, 101 (2000). https://doi.org/10.1097/00125817-200001000-00184
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DOI: https://doi.org/10.1097/00125817-200001000-00184