Challenges of Integrating APOL1 Genetic Test Results into the Electronic Health Record.

OBJECTIVES: Integrating genetic test results into the electronic health record (EHR) is essential for integrating genetic testing into clinical practice. This article describes the organizational challenges of integrating discrete apolipoprotein L1 (APOL1) genetic test results into the EHR for a research study on culturally sensitive genetic counseling for living kidney donors. METHODS: We convened a multidisciplinary team across three institutions (Northwestern University, Northwestern Memorial HealthCare [NMHC], and OHSU Knight Diagnostic Laboratories [KDL]), including researchers, physicians, clinical information technology, and project management. Through a series of meetings over a year between the team and the genetic testing laboratory, we explored and adjusted our EHR integration plan based on regulatory and budgetary constraints. RESULTS: Our original proposal was to transmit results from KDL to NMHC as structured data sent via Health Level Seven (HL7) v2 message. This was ultimately deemed infeasible given the time and resources required to establish the interface, and the low number of samples to be processed for the study (n = 316). We next explored the use of Epic's Care Everywhere interoperability platform, but learned it was not possible as a laboratory test ordered for a research study; even though our intent was to study the APOL1 genetic test result's clinical use and impact, test results were still considered "research results." Faced with two remaining options-downloading a PDF from the KDL laboratory portal or scanning a faxed result from KDL-only a PDF of the APOL1 test result could be integrated into the EHR, reinforcing the status quo. CONCLUSION: Even with early and ongoing stakeholder engagement, dedicated project management, and funding, unanticipated implementation challenges-especially for research projects-can result in drastic design tradeoffs.

Exploring a brief medical improvisational performing arts intervention for genetic counseling graduate students.

Psychosocial counseling is the foundation of genetic counseling. Genetic counseling students are required to receive in-depth training on psychosocial counseling techniques. In other medical disciplines, "medical improv," an educational method derived from improvisational theatre, has been used to allow trainees to practice clinical skills without also having to focus on medical knowledge they've not yet mastered. The present study aims to investigate the acceptability of medical improv as an educational tool for genetic counseling students. Fourteen genetic counseling students and new genetic counselors completed a 2-hr medical improv workshop and participated in follow-up interviews to discuss the workshop. Participants' responses to the intervention were positive, with 92.9% of participants responding that they would recommend medical improv training to other genetic counseling students. Participants described the medical improv workshop as helping build psychosocial skills in a safe environment, which may facilitate the use of more advanced counseling skills in clinical situations. By training students to practice psychosocial skills and building students' confidence, medical improv may help genetic counseling students and genetic counselors be more effective in challenging clinical situations, and to feel more comfortable in experimenting with new ideas and psychosocial techniques in their clinical practice.

Practitioners' Confidence and Desires for Education in Cardiovascular and Sudden Cardiac Death Genetics.

Background Educating cardiologists and health care professionals about cardiovascular genetics and genetic testing is essential to improving diagnosis and management of patients with inherited cardiomyopathies and arrhythmias and those at higher risk for sudden cardiac death. The aim of this study was to understand cardiology and electrophysiology practitioners' current practices, confidence, and knowledge surrounding genetic testing in cardiology and desired topics for an educational program. Methods and Results A one-time survey was administered through purposive email solicitation to 131 cardiology practitioners in the United States. Of these, 107 self-identified as nongenetic practitioners. Over three quarters of nongenetic practitioners reported that they refer patients to genetic providers to discuss cardiovascular genetic tests (n=82; 76.6%). More than half of nongenetic practitioners reported that they were not confident about the types of cardiovascular genetic testing available (n=60; 56%) and/or in ordering appropriate cardiovascular genetic tests (n=66; 62%). In addition, 45% (n=22) of nongenetic practitioners did not feel confident making cardiology treatment recommendations based on genetic test results. Among all providers, the most desired topics for an educational program were risk assessment (94%) and management of inherited cardiac conditions based on guidelines (91%). Conclusions This study emphasizes the importance of access to genetics services in the cardiology field and the need for addressing the identified deficit in confidence and knowledge about cardiogenetics and genetic testing among nongenetic providers. Additional research is needed, including more practitioners from underserved areas.

What People Want to Know About Their Genes: A Critical Review of the Literature on Large-Scale Genome Sequencing Studies.

From a public health perspective, the "All of Us" study provides an opportunity to isolate targeted and cost-effective prevention and early-detection strategies. Identifying motivations for participation in large-scale genomic sequencing (LSGS) studies, and motivations and preferences to receive results will help determine effective strategies for "All of Us" study implementation. This paper offers a critical review of the literature regarding LSGS for adult onset hereditary conditions where results could indicate an increased risk to develop disease. The purpose of this review is to synthesize studies which explored peoples' motivations for participating in LSGS studies, and their desire to receive different types of genetic results. Participants were primarily motivated by altruism, desire to know more about their health, and curiosity. When asked about hypothetically receiving results, most participants in hypothetical studies wanted all results except those which were uncertain (i.e., a variant of uncertain significance (VUS)). However, participants in studies where results were returned preferred to receive only results for which an intervention was available, but also wanted VUS. Concerns about peoples' understanding of results and possible psychosocial implications are noted. Most studies examined populations classified as "early adopters," therefore, additional research on motivations and expectations among the general public, minority, and underserved populations is needed.

Clinical genetic counselors: An asset in the era of precision medicine.

Trying to predict what genetic counseling will look like in the era of precision medicine is a continuous challenge. According to the National Institutes of Health, precision medicine is an emerging approach for disease treatment and prevention that takes into account individual variability in genes, environment, and lifestyle. In order to explore the future of genetic counseling practice in this era, this article examines the current genetic counseling practice, internal and external forces that most likely will continue to shape the genetic counseling profession, and discusses the most important aspects of what genetic counselors have to offer in the era of precision medicine.

Maternal serum screening: results disclosure, anxiety, and risk perception.

Although increased maternal anxiety following the disclosure of positive second-trimester maternal serum screen (MSS) results has been well documented, how this anxiety correlates with the method of results disclosure has not been well defined. This pilot study aimed to determine how abnormal second-trimester MSS results are disclosed, the level of anxiety experienced by women as a result of this disclosure, and the accuracy of their risk perception. Women referred for prenatal genetic counseling were asked to complete a questionnaire including demographics, standardized Spielberger State-Trait Anxiety Inventory, results disclosure information, and perceived risk. Of the 561 questionnaires distributed, 388 (69.2%) women chose to participate. Of the 136 participants referred for an abnormal MSS, 125 (91.9%) were aware of this indication and elected to complete the results disclosure portion of the questionnaire. The average anxiety level was not significantly different based on the method of results disclosure or who reported the results. We did not identify a definite cause for the anxiety experienced by women receiving abnormal MSS results; however, this study illustrates the need for further research to identify factors that contribute to the elevated anxiety experienced by these women.

Anxiety and prenatal testing: do women with soft ultrasound findings have increased anxiety compared to women with other indications for testing?

OBJECTIVE: To determine whether there is a difference in anxiety levels in women referred for soft ultrasound findings, AMA, and abnormal serum marker screens, all of whom have a similar risk for chromosome abnormalities, in order to provide an understanding of patients' anxiety, which may enhance the genetic counseling process. METHODS: Two self-administered questionnaires were completed after the genetic counseling session. Participants were recruited from multiple prenatal clinics throughout Houston, Texas. The State-Trait Anxiety Inventory Form Y was used to measure anxiety in study participants. Both state and trait anxiety were assessed. Differences between groups were examined using one-way analysis of variance, crosstabulation, chi-square, and Tukey multiple comparisons analysis. A p-value of < 0.05 was considered significant. RESULTS: Two hundred fifteen women participated in the study: 124 AMA, 55 abnormal maternal serum screens, and 36 soft ultrasound findings. Our findings revealed that women with soft ultrasound findings and abnormal maternal serum screens had significantly higher state anxiety than women who are AMA. State anxiety in women with soft ultrasound findings was not significantly different from women with abnormal maternal serum screens. No significant difference was found between the three groups for trait anxiety. Perceived risk, decision to undergo amniocentesis, education level, and income were factors that significantly affected the women's anxiety scores. However, none of these factors proved to be successful indicators of state or trait anxiety. CONCLUSION: A woman's referral indication is associated with different levels of anxiety as compared to the actual numerical risk for chromosome abnormalities presented during a genetic counseling session.

Awareness and attitudes regarding prenatal testing among Texas women of childbearing age.

Despite increased visibility and availability of prenatal testing procedures, very little is known about the attitudes among the populace toward these procedures. Using a computer assisted telephone interview of pregnant and non-pregnant women of childbearing age we analyze awareness and attitudes regarding prenatal tests among a diverse group of women of childbearing age in Texas. We also examine maternal characteristics associated with awareness and the willingness to undergo these procedures. While 89% were aware that such tests are available, younger, black and less educated women were less likely to know about prenatal tests for birth defects. Seventy-two percent of respondents said they would want their baby tested while Hispanic and black women were significantly more likely to express an interest than non-Hispanic whites. This study demonstrates the variability of knowledge and beliefs and confirms the importance of taking time to understand an individual's personal beliefs, knowledge and attitudes about prenatal diagnosis.

Racial-ethnic differences in genetic amniocentesis uptake.

The objective of this study was to determine the role of health beliefs in genetic amniocentesis acceptance in a diverse racial-ethnic population. Participants completed a previously-validated questionnaire consisting of three sections: (1) demographics, (2) amniocentesis knowledge, and (3) health beliefs, which assessed perceived susceptibility, seriousness of potential impact, benefits of testing, and barriers to testing. The results showed that Hispanic women were less likely to accept amniocentesis (51.5% vs. Caucasian 82.8%, African American 82.9%, Asian 82.8%). Education level was the only demographic factor higher among acceptors. Women who accepted amniocentesis had higher perceived seriousness, susceptibility, and benefits HBM scores and higher knowledge scores than women who declined. HBM scores and knowledge predicted the amniocentesis decision correctly 91.5% of the time. Individual health beliefs and knowledge play a greater role in genetic amniocentesis acceptance than do demographic factors such as race-ethnicity.

Ultrasound diagnosis of coexisting molar pregnancy following referral for abnormal serum screen.

Complete hydatidiform mole and coexistent fetus is a rare occurrence. We report a case of a patient referred for abnormal serum screen and vaginal bleeding in the second trimester of pregnancy. Ultrasound revealed a cystic and solid mass along the posterior uterine wall with multiple hypoechoic (honeycomb) areas noted, consistent with molar degeneration of the placenta. Separate from this mass was a coexisting viable fetus with normal fetal anatomy and distinct anterior placenta. At delivery, a large cystic mass of placental tissue appeared to be implanted separately from a normal-appearing fetus and placenta. The mass weighed 184 g and contained multiple 1- to 1.5-cm cysts throughout. Microscopic sections revealed hydropic chorionic villi with central cistern formation and nonpolar trophoblastic hyperplasia with atypia, compatible with complete hydatidiform mole. This case illustrates that the diagnosis of coexisting molar pregnancy after referral for abnormal serum screen should be considered, especially if maternal serum beta-human chorionic gonadotropin is high and the patient has vaginal bleeding.

Clinical correlates of pain with amniocentesis.

OBJECTIVE: The purpose of this study was to determine whether sensory or affective dimensions of pain with genetic amniocentesis are associated with identifiable clinical correlates. STUDY DESIGN: Women completed the short-form McGill Pain Questionnaire after second-trimester genetic amniocentesis. The effect of maternal weight, parity, previous amniocentesis, previous surgery, history of menstrual cramps, maternal anxiety, presence of fibroid tumors, and depth and location of needle insertion on pain intensity was determined. The T-test, correlation matrix, Kruskal-Wallis test, and multiple logistic regression were used for analysis; a probability value of <.05 was considered significant. RESULTS: One hundred twenty-one women were enrolled: 19.3% reported no pain, 42.9% described the pain as mild, 31.1% described the pain as discomforting, and 6.7% described the pain as distressing or horrible. Mean intensity of pain was 1.6+/-1.3 (on a scale of 0-7). Pain was most often described as sharp, cramping, fearful, and stabbing. Anxiety and pain were increased in women with an indication of abnormal serum screen as compared with women with advanced maternal age. Anxiety and a history of menstrual cramps were associated with increased affective dimensions of pain and had moderate correlation with quantified pain intensity. A history of previous amniocentesis and needle insertion in the lower one third of the uterus were associated with increased pain. Maternal weight, parity, previous surgery, fibroid tumors, and depth of needle insertion were not correlated with perceived pain. Presence or absence of an accompanying person was not associated with pain intensity. CONCLUSION: Women report mild pain or discomfort with genetic amniocentesis. Increased pain is associated with increased maternal anxiety, a history of menstrual cramps, a previous amniocentesis, and insertion of the needle in the lower uterus.

Humerus length evaluation in different ethnic groups.

OBJECTIVE: Femoral length has gained much attention for its use as a marker for Down syndrome, and racial variation has been evaluated. We hypothesized that no racial differences in humerus length will be shown from 14 to 22 weeks' gestation. METHODS: Our sonography database was queried from January 1, 1994, to September 30, 2001, for obstetric sonographic examinations of singleton fetuses. Cases with incomplete data, fetal anomalies, and cases without documented ethnicity were excluded. Only 1 examination per fetus was used. Individual parameters were evaluated from 14 to 22 weeks' gestation in white non-Hispanic, Hispanic, African American, Asian, and Eastern Indian women. Linear regression was used to model the relation of humerus length to menstrual age and to compare the humerus length for gestational age among ethnic groups. We compared the sensitivity for Down syndrome detection from a standard expected humerus length formula and ethnic-specific formulas. RESULTS: We identified 1164 fetuses: 380 white, 224 Hispanic, 432 African American, 116 Asian, and 12 Eastern Indian. Comparing with white fetuses, we found differences in humerus length among African American (P < .001) and Asian (P < .001) fetuses but not among Hispanic fetuses (P = .98). The sensitivity for Down syndrome detection from standard and ethnic-specific formulas was identical. CONCLUSIONS: In this cohort, small differences in humerus length exist among ethnic groups. These differences did not affect the sensitivity of expected humerus length as a marker of Down syndrome in our diverse population.