The utility of genetic counseling prior to offering first trimester screening options.

In order to evaluate the utility of genetic counseling at the time of first trimester screening in patients with no previously identified genetic concerns, we reviewed family history data for 700 women seen for genetic counseling in Utah during 2005-2006. The mean maternal age was 35 years (Range: 16-47 years). The majority of patients seen were non-Jewish Caucasians (90.8%, 634/700). A three-generation pedigree was obtained from each woman by one of two certified genetic counselors and subsequently classified as "negative" (no birth defects/genetic disorders); "positive" (birth defect or genetic condition with a minimal/low risk of recurrence; additional evaluation/genetic testing during pregnancy not indicated); or "significant" (birth defect or genetic condition with an increased risk of recurrence; additional evaluation/genetic testing during the pregnancy indicated). About 72% (501/700) of the histories were negative, 19% (134/700) were positive, and about 9% (65/700) were significant. Among patients with significant family histories, 66% (n = 43) were women less than 35 years of age. We conclude that assessing a patient's family history at the time of first trimester serum screening is a valuable resource for pregnancy management.

The complexity of fetal imaging: reconciling clinical care with patient entertainment.

Currently in the United States, pregnant women may obtain both medical fetal ultrasonography for screening and commercial fetal ultrasonography for entertainment purposes. The proliferation of commercial fetal ultrasonography suggests that medical screening alone does not satisfy patient expectations regarding fetal imaging. We investigated the prevalence of nonmedical fetal imaging and patient experiences and perceptions with both medical and nonmedical ultrasonography in our metropolitan area. We initiate a dialogue to explore the distinctions between medical and nonmedical fetal ultrasound imaging and the role of entertainment imaging in the medical setting. Concerns about safety, false reassurance, and unnecessary anxiety that might be generated by nonmedical ultrasonography should prompt us to examine the expectations of women regarding entertainment imaging, current clinical practice, and the potential for regulation of this commercial industry.

Author perception of peer review.

OBJECTIVE: To survey authors submitting manuscripts to a leading specialty journal regarding their assessment of editorial review. The study sought factors affecting authors' satisfaction and whether authors rated the journal review processes differently from the commentary provided by different reviewers. METHODS: Participation in an online survey was offered to 445 corresponding authors of research manuscripts submitted consecutively during a 7-month period. All manuscripts received full editorial review. The survey instrument asked authors to rate six aspects of editorial comments from each of two to four reviewers and three aspects of the review process. In addition, the survey queried overall satisfaction and likelihood of submission of future manuscripts based on review experience. RESULTS: Higher ratings for overall satisfaction with manuscript review were given by authors of accepted compared with rejected manuscripts (98% compared with 80%, P<.001). Authors rated processes for submission and review more highly than editorial commentary (88% compared with 69%, P<.001), and this difference was greater among authors of rejected manuscripts. The extent to which reviewers focused on important aspects of submitted manuscripts received the lowest ratings from authors. Authors' ratings of reviewers' comments differentiated between reviewers and did not correlate with ratings of reviews by the journal's senior editors. CONCLUSION: Author feedback was more favorable among authors of accepted manuscripts, and responses differentiated among aspects of editorial review and reviewers. Author feedback may provide a means for monitoring and improvement of processes for editorial review and reviewer commentary. LEVEL OF EVIDENCE: III.

Estimating recurrence of spontaneous preterm delivery.

OBJECTIVE: To identify factors associated with spontaneous preterm birth and to estimate the risk of its recurrence for the second through fourth births among women in Utah who had a first and any subsequent birth between 1989 and 2001, using a retrospective cohort study design. METHODS: Utah state birth records were reviewed to identify women with a first live birth and at least one subsequent live birth from 1989 to 2001. Recurrence risks for spontaneous preterm birth were calculated for first through fourth births. Then all parties (1-12) and multiple maternal risk factors were used to estimate recurrence risks for pre-term birth outcomes by multinomial regression. Recurrence risks for early and late spontaneous preterm birth were calculated. Recurrence also was evaluated as the fraction attributable to previous spontaneous preterm birth. Using the identified factors, the sample was divided and the model was estimated for a subset of births (1989-1999); its predictive value was tested on the remaining births (2000-2001). RESULTS: Women who experienced a spontaneous preterm birth before 34 weeks of gestation in their first or second live birth had the highest rate of recurrence. Spontaneous preterm birth before 34 weeks was the highest risk factor for recurrence of early spontaneous preterm birth (relative risk 13.56, 95% confidence interval 11.5-16.0), and, in general, risks were highest for recurrences of same gestational age outcomes. CONCLUSION: A history of a live spontaneous birth before 34 weeks of gestation is a strong predictor of subsequent spontaneous preterm birth. A model of clinical risk factors may be used to identify women at increased risk for recurrent spontaneous preterm birth.

Cross-linked hydrogels for middle ear packing.

OBJECTIVE: To develop an ideal supportive packing material for ossiculoplasty, tympanoplasty, or other otologic procedures. MATERIALS AND METHODS: Several materials, namely, Carbylan-SX (P-C; Sentrx Surgical, Inc., Salt Lake City, UT), Gelfoam (P-GF; Pharmacia & Upjohn, Kalamazoo, MI), and Merogel (P-MG; Medtronics, Inc., Minneapolis, MN), were prepared and then placed into a Hartley guinea pig's (Elm Hill, Chelmsford, MA) middle ear cavities through a large myringotomy incision. The contralateral ear underwent a large myringotomy without packing material being placed. Preoperative and posteroperative auditory brainstem response studies were performed using Intelligent Hearing system software. The animals were examined weekly. Two weeks after packing placement, the animals were killed, and the temporal bones were harvested. Whole temporal bone sectioning was performed to analyze the presence of implant, surrounding inflammation, presence of osteoneogenesis and fibrosis, or adhesions. RESULTS: All the materials, except the P-MG, were easy to place into the middle ear cavity. The P-MG contains woven strands that are difficult to trim into the small sizes needed for placement. The P-MG group had a smaller average amount of implant present compared with the other groups at 2 weeks. The degree of osteoneogenesis was similar among the P-GF, P-C, and P-MG groups. The P-MG and P-C groups contained the lowest amount of fibrosis between the implant and surrounding middle ear structures. CONCLUSION: This study demonstrates promising results with P-C as a potential supportive packing material for otologic procedures. P-C compares favorably with P-MG and P-GF in a guinea pig model with respect to ease of placement and amount of fibrosis.

Crosslinked hydrogels for tympanic membrane repair.

PROBLEM: To provide a less expensive and more convenient protocol for the treatment of tympanic membrane perforations (TMPs). METHODS: Several materials were prepared and compared for TMP repair including Carbylan-SX, Gelatin-DTPH-PEGDA (GX), Carbylan-S/Gelatin-DTPH (Carbylan-GSX) (injectable and sponge), Gelfoam, Epifilm, and crosslinked thiolated chondroitin sulfate (CS-DTPH-PEGDA [CS-SX]). Hartley pigmented guinea pigs (Elm Hill) underwent bilateral myringotomy with 1 ear left as a control and the other treated with one of the previously mentioned materials. RESULTS: Carbylan-GSX (injectable and sponge), Gelfoam with saline, and CS-SX had the shortest time for TMP closure. Epifilm, Carbylan, and gelatin preparations resulted in closure rates similar to controls. CS-SX showed a marked inflammatory reaction compared with controls and other materials based on neutrophil, lymphocyte, epitheloid counts, and degree of fibrosis. CONCLUSIONS: This study shows the validity of Carbylan-GSX compared with Gelfoam as a material to promote TMP closure in an acute TMP guinea pig model.

Perspectives on efforts to address HIV/AIDS of religious clergy serving African American and Hispanic communities in Utah.

INTRODUCTION: The HIV/AIDS epidemic in America is rapidly progressing in certain subpopulations, including African-American and Hispanic communities. Churches may provide a means for reaching high-risk minority populations with effective HIV/AIDS prevention. We report on a series of focus group interviews conducted with Utah clergy who primarily serve African American and Hispanic congregations. METHODS: A total of three focus groups (two with Catholic clergy serving Hispanic congregations and one with protestant clergy serving African American congregations) were conducted with eleven participants, lasting approximately two hours each. Each focus group was audio-recorded and transcribed for analysis. Analysis of the data was conducted using a modified grounded theory approach. RESULTS: There were remarkable similarities in the attitudes and beliefs among all clergy participating in this study regarding HIV/AIDS and church-based prevention programs. All groups expressed concern about the diseases as a global epidemic and reported that the disease is highly preventable. Also, participants indicated a sense of responsibility to address the issues surrounding HIV/AIDS-related prevention, testing and care within their theological framework. CONCLUSION: HIV/AIDS prevention and care for the infected are seen as falling within the scope of religious organizations. Openness to expanding efforts in this regard was shared by clergy participating in this study. Approaching religious leaders with tailored approaches that respect the values and practices of their particular religions will be more effective than attempting to impose approaches that do not achieve this standard.

An internet-based method of selecting control populations for epidemiologic studies.

Identifying control subjects for epidemiologic studies continues to increase in difficulty because of changes in telephone technology such as answering services and machines, caller identification, and cell phones. An Internet-based method for obtaining study subjects that may increase response rates has been developed and is described. This method uses information from two websites that, when combined, provide accurate and complete lists of names, addresses, and listed phone numbers. This method was developed by use of randomly selected streets in a suburb of Salt Lake City, Utah, in June 2005.

Acceptance of genetic testing for hereditary breast ovarian cancer among study enrollees from an African American kindred.

Clinical availability of genetic testing for cancer predisposition genes is generating a major challenge for U.S. health care systems to provide relevant genetic services to underserved populations. Here we present rates of study enrollment and utilization of genetic testing in a research study on BRCA1 testing acceptance in one large kindred. We also present data on baseline access to genetic information as well as enabling and obstructing factors to study enrollment. The study population included female and male members of an African American kindred based in the rural southern United States with an identified BRCA1 mutation. A combination of quantitative and qualitative data were collected and analyzed. Of the 161 living, eligible, and locatable kindred members, 105 (65%) enrolled in the study. Family, personal, and educational motivations were the most commonly endorsed reasons for study participation. The most commonly cited reasons for refusal to participate in the study were: lack of interest, time constraints, and negative experiences with prior participation in genetic research. Eighty three percent of the participants underwent BRCA1 testing. In multiple logistic regression analysis, age 40-49 (odds ratio (OR) = 6.9; 95% confidence interval (CI) = 1.2-39.5), increased perceived risk of being a BRCA1 mutation carrier (OR = 4.1; 95% CI = 1.1-14.6), and high cancer genetics knowledge levels (OR = 1.5; 95% CI = 1.1-2.3) were associated with BRCA1 testing acceptance. The results of this study indicate that cognitive and demographic factors may influence genetic research participation and genetic testing decisions among African Americans who are at increased risk of carrying a deleterious BRCA1 mutation.

Risk reduction behaviors and provider communication following genetic counseling and BRCA1 mutation testing in an African American kindred.

Little is known about the impact of cancer genetic counseling and testing on health behaviors in racial and ethnic subgroups. This prospective observational study examined use of risk reduction strategies following BRCA1 counseling and testing. Participants were female members of an African American kindred who received genetic education, counseling and testing (n = 40) and completed a 1-year follow-up interview. Mutation carriers were more likely to opt for breast (100%, 7/7) and ovarian (25%; 1 of 4) cancer surveillance than prophylactic surgery. Following genetic counseling, 71% (5/7) of the BRCA1 carriers who opted for surveillance reported having a mammogram within the year following receipt of their genetic test results. Ovarian cancer screening among mutation carriers increased from 0% at baseline to 25% (one of four) at 1 year. Compared to noncarriers (23%, 7/30), carriers (70%, 7/10) were more likely to discuss their BRCA1 test results with their primary health care providers. Surveillance for breast cancer was preferred to prophylactic surgery and chemoprevention as a way to reduce risk for these cancers. Our data indicate that patient-provider communication about BRCA1 test results is suboptimal.

The impact of receiving genetic test results on general and cancer-specific psychologic distress among members of an African-American kindred with a BRCA1 mutation.

BACKGROUND: Numerous studies have examined short-term and long-term psychologic responses to genetic testing for breast/ovarian carcinoma susceptibility in clinic samples and among families who participated in genetic linkage studies. However, to the authors' knowledge, the vast majority of studies focused on non-Latino whites and women. In this prospective study, the authors investigated the psychologic impact of receiving carrier-specific BRCA1 test results as part of a genetic education/counseling intervention in female and male members of an African-American kindred with a BRCA1 mutation. METHODS: Eighty-five of 101 participating kindred members (84%) underwent genetic counseling/education and testing according to an established protocol. Participants completed in-person or telephone-administered, computer-assisted interviews. At baseline and after the receipt of test results (1 mo, 4 mos, and 12 mos), general psychologic distress (i.e., anxiety and depression) and cancer-specific distress were measured. Statistical analyses were performed using linear mixed-model approaches for longitudinal data. RESULTS: The hypothesis that mutation carriers, particularly women who had no personal history of breast carcinoma, were expected to report greater distress than noncarriers was not supported. After controlling for socioeconomic status and personal history of breast/ovarian carcinoma, noncarriers reported significant declines in the distress measures (depressive symptoms, anxiety and cancer-related worries), whereas distress was not altered markedly in carriers after genetic risk notification. CONCLUSIONS: The current findings suggested that individuals receiving BRCA1 test results who learn that they are not carriers of a deleterious mutation may experience psychologic benefits. Furthermore, those who learned that they were mutation carriers did not appear to have adverse, clinically meaningful psychologic outcomes.