BackgroundThe Genetic and Rare Disease Information Center (GARD) is a major provider of Web-based information on genetic and rare diseases. Little is known about the type of Web-based information individuals seek about genetic and rare diseases or their reasons for seeking.ObjectiveThe objective of this paper is to describe the types of Web-based information sought about genetic and rare diseases and the reasons for seeking it from GARD by examining inquiries from 2006 and 2011.MethodsThere were 278 English-language email and Web-based inquiries posed to GARD by lay individuals (ie, patients, parents, and relatives), which were randomly selected from inquiries in 2006 (n=68) and 2011 (n=210) and examined using content analysis.ResultsMost often in both years, individuals sought basic disease information (51/68, 75.0% and 132/210, 62.8%; P=.067) and information about treatment (17/51, 33.3% and 62/132, 47.0%; P=.095). Specifically, inquirers requested information about their disease prognosis (6/51, 11.8% and 23/132, 17.4%; P=.347) and made requests for specialists (8/68, 11.8% and 31/210, 14.8%; P=.536). In both 2006 and 2011, a substantial subset of inquirers requested information related to undiagnosed symptoms, representing 16.2% (11/68) and 11.9% (25/210; P=.362) of inquiries, respectively. Inquirers were significantly more likely to have seen a health care provider before contacting GARD (99/210, 47.1% vs 20/68, 29.4%; P=.010) and to ask about clinical research studies in 2011 than in 2006 (24/210, 11.4% vs 2/68, 2.9%; P=.037). In the 2011 data set, the majority of the inquirers were women (201/210, 95.7%). In our 2006 sample, men were the majority source of inquiries (54/68, 79.4%).ConclusionsFindings from this study indicate that lay people contacting a genetic and rare disease information center most often seek information about disease prognosis, finding a specialist, and obtaining a diagnosis for symptoms. Unique characteristics of individuals searching the Internet for genetic and rare diseases information, includes a growing interest in participating in clinical research studies and a desire to supplement or better understand information discussed during a visit with a health care provider. These efforts represent advancements in patient self-advocacy.
To evaluate an academic institution’s implementation of a gynecologic electronic consultation (eConsult) service, including the most common queries, turnaround time, need for conversion to in-person visits, and to demonstrate how eConsults can improve access and convenience for patients and providers. This is a descriptive and retrospective electronic chart review. We obtained data from the UCSF eConsult and Smart Referral program manager. The medical system provided institution-wide statistics. Three authors reviewed and categorized gynecologic eConsults for the last fiscal year. The senior author resolved conflicts in coding. The eConsult program manager provided billing information and provider reimbursement. A total of 548 eConsults were submitted to the gynecology service between July 2017 and June 2020 (4.5% of institutional eConsult volume). Ninety-five percent of the eConsults were completed by a senior specialist within our department. Abnormal pap smear management, abnormal uterine bleeding, and contraception questions were the most common queries. Over half (59.3%) of all inquiries were answered on the same day as they were received, with an average of 9% declined. Gynecology was the 10th largest eConsult provider at our institution in 2020. The present investigation describes one large university-based experience with eConsults in gynecology. Results demonstrate that eConsults permit appropriate, efficient triaging of time-sensitive conditions affecting patients especially in the time of the COVID-19 pandemic. eConsult services provide the potential to improve access, interdisciplinary communication, and patient and provider satisfaction.
Objective: This study aimed to assess factors that influence patients’ decisions in accepting prenatal diagnostic testing following genetic counseling for increased risk of fetal aneuploidy. Methods: A retrospective cohort study of women at increased risk of fetal aneuploidy who had genetic counseling from January 2012 to December 2016 at a single academic center. Demographics, indications for genetic counseling and rates of diagnostic testing were collected and compared between those who accepted diagnostic testing and those who chose cell free DNA. The variables were analyzed using chi-square, Fisher exact test, and multiple logistic regression. Result: Of the 2373 pregnant women who underwent genetic counseling for increased risk of fetal aneuploidy during the study period, 321 women had diagnostic testing (13.5%). Women at 35 years and older accepted diagnostic testing more than women younger than 35 years (20.7% versus 11.5%, p < 0.001). Asian women accepted diagnostic testing at 27.7% more than white, non-Hispanic Black and Hispanic women at 18.0%, 12.1% and 11.7% respectively, p = 0.002. Number of indications for genetic counseling influenced the likelihood of accepting diagnostic testing. Women with one indication had 11.5% acceptance of diagnostic testing; and with two and three indications, it was 17.0% and 29.2% respectively. The commonest indication for diagnostic testing was cystic hygroma (RR 7.5, 95% CI 3.12-8.76 p < 0.001). The relative risk of diagnostic testing for fetuses with shortened long bones; femur and humerus, thickened nuchal fold, echogenic bowel, single umbilical artery, increased nuchal translucency were 4.0, 3.3, 3.1, 2.7, and 2.7 respectively. Abnormal serum analyte alone was associated with less acceptance of diagnostic testing (RR 0.8, 95% CI 0.7 – 0.96, p = 0.017). Conclusion: Age, race, ethnicity and cumulative number of indications for genetic counseling influenced acceptance of diagnostic testing in at-risk women of fetal aneuploidy and genetic disorders
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