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Purpose: To document primary care physicians' utilization and perceptions of genetics services. Methods: A randomized survey of physicians in the Pacific Northwest. Results: The greatest factor prompting a genetics referral was the patient's interest in the evaluation, and the most common reason not to obtain a consultation was the perception that it was of no benefit to the patient. Genetics consultation was rarely sought for a family history of cancer or for deafness, polycystic kidney disease, or congenital heart disease. Even when uncertain about relative risk, physicians usually counseled a patient themselves rather than referring to a specialist. Concluslon: Primary care physicians need more education about the genetic component of many diseases to provide directly and to refer appropriately for genetics services.Key words: Genetics services, primary care, attitudes, perceptions, utilization Many physicians believe that genetic disease is rare. Although most individual disorders are uncommon, there are thousands of human genetic diseases.' In aggregate, genetic disease is common and accounts for substantial morbidity and mortality.'v2 As genetic factors in common diseases are identified, genetics will become even more relevant to the health of an increasing number of individuals. These advances demand commensurate growth in the awareness and recognition of genetic components of disease by physicians and in their preparedness to provide genetics services. This is especially true in today's climate of managed health care, in which primary care physicians play a pivotal role in coordinating services.Potential barriers to the effective utilization of genetic testing and services are deficiencies in the knowledge of genetics, limited awareness of genetics services, financial pressures within managed care plans, and perceptions of a limited benefit or even risk of harm from these services. Deficiencies in primary care physicians' knowledge of genetics and genetics tests are well documentedM and have been linked with referral practices.", ' -l o These deficiencies are not unexpected because most health care providers were educated and trained before the genetics revolution of the past decade.In this study, we sought to determine primary care physicians' knowledge of local and regional genetics services, their patterns of use of these services, and their perceptions of the benefits and detriments of these services. To evaluate the direct delivery of genetics services by primary care physicians, we asked about routine genetic screening practices and management of patients with a specific genetic disorder or family history. MEIHODSThe Pacific Northwest region includes Alaska, Idaho, Oregon, and Washington and encompasses a population of nearly 10 million people spread across more than 835,000 square miles. It includes several large metropolitan areas, a substantial rural population, and areas of extreme geographic isolation.Medical genetics services currently are delivered in academic medical centers, outreach clini...

The objective of this paper was to determine the rate of prenatal detection of ultrasonographic abnormalities in fetuses with trisomy 18 during the early second trimester. Our prenatal diagnosis database (encompassing January 1987 to June 1996) was searched for all patients referred for prenatal genetic evaluation between 14 and 22 weeks of gestation and who were found to have a fetus with a trisomy 18 karyotype. The sonographic reports and films were evaluated for the presence or absence of fetal anatomic abnormalities. Thirty-five fetuses were identified with a mean age of 17.3+/-2.0 (standard deviation) weeks. Thirty of the 35 (86%) had at least one detected abnormality. Most fetuses had more than one abnormality, with the mean number of abnormalities per fetus being three (range, 0 to 6). The most common abnormalities noted were persistent abnormal position of fetal fingers (89%); choroid plexus cysts (43%); abnormally shaped fetal head (strawberry or lemon) (43%); two-vessel umbilical cord (40%); cardiac defects (37%); intrauterine growth restriction (29%); omphalocele (20%); neural tube defects (9%); and cystic hygroma or lymphangiectasia (14%). Abnormalities of amniotic fluid volume (12%) and renal defects (9%) were seen less frequently. These data suggest that in the early second trimester, the time of most routine screening ultrasonographic examinations, most but not all fetuses with trisomy 18 have sonographically detectable anatomic abnormalities. The fetal hand appears to be abnormal in most early second trimester fetuses with trisomy 18, but the abnormality may be subtle and or unilateral.

Using data from interviews with 28 older couples in which 1 spouse was diagnosed with diabetes and osteoarthritis, we examined illness perceptions and coping activities as they relate to illness management and relationship resilience. Qualitative analysis of interview transcripts revealed categories of data related to perceptions, coping, and cross category comparisons. Findings suggest that couples experience both negative and positive perceptions of their illnesses, indicating a balance between the reality of their illness challenges and an optimistic outlook of the future. Coping activities included a variety of tasks and were performed by individuals, by both spouses in a shared effort, and by individuals and shared couple efforts. Findings highlight the complexity of individual and shared couple illness perception and couple efforts in managing multiple-chronic illnesses.

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