Browsing by Subject "genetic testing"
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Item Apolipoprotein B and PNPLA3 Double Heterozygosity in a Father–Son Pair With Advanced Nonalcoholic Fatty Liver Disease(Wiley, 2019) Jansson-Knodell, Claire L.; Gawrieh, Samer; McIntyre, Adam D.; Liang, Tiebing; Hegele, Robert A.; Chalasani, Naga; Medicine, School of MedicineItem Development of a Theory-Informed Patient Decision Aid to Facilitate Consent to Genetic Testing in the Neonatal Intensive Care Unit(2024-05) Higley, Keeley; Head, Katharine J.; Brann, Maria; Bute, Jennifer J.Genetic testing is an essential diagnostic tool in the neonatal intensive care unit (NICU) that can shorten infants’ stays, improve accuracy and effectiveness of medical care, and overall improve quality of life. However, there are challenges involved in the process of recommending life-saving and care-changing genetic testing in the NICU, including parental concerns around issues of paternity, guardians’ decisional anxiety, low health literacy, limited understanding of genetic testing, and receiving conflicting information from different healthcare providers. These challenges are exacerbated by the urgency guardians face in the NICU; guardians’ first exposure to genetic testing often occurs immediately before they are asked to decline or consent to it while in an extremely emotional state and fraught environment, creating a sense of urgency that affects decision-making. Current patient-provider communication practices in the NICU could benefit from improved, streamlined communication tools to help guardians make thoughtful decisions about genetic testing for their hospitalized infants. One potential strategy to streamline communication about genetic testing in the NICU is incorporating self-determination theory into patient decision aids. A series of three iterative interview rounds with NICU guardians and new guardians of infants younger than three years old were conducted. Following each round of interviews, recordings were transcribed, and feedback from participants was used to revise a patient decision aid guided by self-determination theory. After completing all three rounds of interviews and revisions, thematic analysis was conducted on all transcribed interviews to identify salient themes to NICU genetic testing decision-making. The final version of the patient decision aid developed from this study will serve as a starting point for integrating this important tool into the NICU.Item Genetic Testing and Type 2 Diabetes Risk Awareness(2014-03) de Groot, Mary; Wessel, JenniferPurpose The purpose of this study was to examine the motivational, attitudinal, and behavioral predictors of interest in genetic testing (GT) in those with and without awareness of their risk for type 2 diabetes (T2DM). Methods A convenience sample of adults visiting emergency departments, libraries, or an online research registry was surveyed. Responses from adults without diabetes who reported 1 or more risk factors for T2DM (eg, family history, body mass index > 25) were included in the analyses (n = 265). Results Participants were 37 ± 11 years old, white (54%), and female (69%), with some college education (53%) and an annual income below $25 000 (44%). Approximately half (52%) expressed interest in GT for T2DM. Individuals were stratified by perceived risk for T2DM (risk aware or risk unaware). Among the risk aware, younger age (P < .04) predicted greater interest in GT. Among the risk unaware, family history of T2DM (P < .008) and preference to know genetic risk (P < .0002) predicted interest in GT. Both groups identified the need for low-cost GT. Conclusions GT is an increasingly available and accurate tool to predict T2DM risk for patients. In this sample, GT was a salient tool for those with and without awareness of their T2DM risk. Financial accessibility is critical to use of this tool for both groups.Item Nephrotoxicity in a Patient With Inadequate Pain Control: Potential Role of Pharmacogenetic Testing for Cytochrome P450 2D6 and Apolipoprotein L1(Frontiers, 2020-01) Tillman, Emma M.; Skaar, Todd C.; Eadon, Michael T.; Medicine, School of MedicineA case is presented which demonstrates the perils of opioid inefficacy and how pharmacogenomic testing may have prevented nonsteroidal anti-inflammatory drug (NSAID)-induced nephrotoxicity and progression to chronic kidney disease (CKD). A 62 year-old female with back pain was treated with tramadol and hydrocodone; however, neither proved effective. Consequently, to control her pain, she resorted to cocaine, marijuana, and high dose nonsteroidal anti-inflammatory drugs (NSAIDs). She eventually developed CKD. To identify CKD contributors, she underwent genotyping for Apolipoprotein L1 (APOL1), a known risk factor of CKD, as well as relevant pharmacogenomic genes. Her APOL1 genotype was *G1(GM)/*G1(GM), placing her at increased risk of CKD progression. Her CYP2D6 genotype was *5/*17, consistent with intermediate metabolism, making opioid drugs reliant on CYP2D6 activation, such as tramadol and hydrocodone, relatively ineffective in this patient. Thus, this patient was at genetic risk for CKD and reduced opioid efficacy. We conclude that this genetic combination likely contributed to opioid inefficacy and the eventual progression to CKD.Item Novel recruitment strategy to enrich for LRRK2 mutation carriers(Wiley, 2015-09) Foroud, Tatiana; Smith, Danielle; Jackson, Jacqueline; Verbrugge, Jennifer; Halter, Cheryl; Wetherill, Leah; Sims, Katherine; Xin, Winnie; Arnedo, Vanessa; Lasch, Shirley; Marek, Kenneth; Department of Medical and Molecular Genetics, IU School of MedicineThe LRRK2 G2019S mutation is found at higher frequency among Parkinson disease (PD) patients of Ashkenazi Jewish (AJ) ancestry. This study was designed to test whether an internet-based approach could be an effective approach to screen and identify mutation carriers. Individuals with and without PD of AJ ancestry were recruited and consented through an internet-based study website. An algorithm was applied to a series of screening questions to identify individuals at increased risk to carry the LRRK2 G2019S mutation. About 1000 individuals completed the initial screening. Around 741 qualified for mutation testing and 650 were tested. Seventy-two individuals carried at least one LRRK2 G2019S mutation; 38 with PD (12.5%) and 34 without (10.1%). Among the AJ PD participants, each affected first-degree relative increased the likelihood the individual was LRRK2+ [OR = 4.7; 95% confidence interval = (2.4–9.0)]. The same was not observed among the unaffected AJ subjects (P = 0.11). An internet-based approach successfully screened large numbers of individuals to identify those with risk factors increasing the likelihood that they carried a LRRK2 G2019S mutation. A similar approach could be implemented in other disorders to identify individuals for clinical trials, biomarker analyses and other types of research studies.Item Role of advanced neuroimaging, fluid biomarkers and genetic testing in the assessment of sport-related concussion: a systematic review(BMJ, 2017) McCrea, Michael; Meier, Timothy; Huber, Daniel; Ptito, Alain; Bigler, Erin; Debert, Chantel T.; Manley, Geoff; Menon, David; Chen, Jen-Kai; Wall, Rachel; Schneider, Kathryn J.; McAllister, Thomas; Psychiatry, School of MedicineObjective To conduct a systematic review of published literature on advanced neuroimaging, fluid biomarkers and genetic testing in the assessment of sport-related concussion (SRC). Data sources Computerised searches of Medline, PubMed, Cumulative Index to Nursing and Allied Health Literature (CINAHL), PsycINFO, Scopus and Cochrane Library from 1 January 2000 to 31 December 2016 were done. There were 3222 articles identified. Study selection In addition to medical subject heading terms, a study was included if (1) published in English, (2) represented original research, (3) involved human research, (4) pertained to SRC and (5) involved data from neuroimaging, fluid biomarkers or genetic testing collected within 6 months of injury. Ninety-eight studies qualified for review (76 neuroimaging, 16 biomarkers and 6 genetic testing). Data extraction Separate reviews were conducted for neuroimaging, biomarkers and genetic testing. A standardised data extraction tool was used to document study design, population, tests employed and key findings. Reviewers used a modified quality assessment of studies of diagnostic accuracy studies (QUADAS-2) tool to rate the risk of bias, and a modified Grading of Recommendations Assessment, Development, and Evaluation (GRADE) system to rate the overall level of evidence for each search. Data synthesis Results from the three respective reviews are compiled in separate tables and an interpretive summary of the findings is provided. Conclusions Advanced neuroimaging, fluid biomarkers and genetic testing are important research tools, but require further validation to determine their ultimate clinical utility in the evaluation of SRC. Future research efforts should address current gaps that limit clinical translation. Ultimately, research on neurobiological and genetic aspects of SRC is predicted to have major translational significance to evidence-based approaches to clinical management of SRC, much like applied clinical research has had over the past 20 years.Item Understanding the Return of Genomic Sequencing Results Process: Content Review of Participant Summary Letters in the eMERGE Research Network(MDPI, 2020-05-13) Lynch, John A.; Sharp, Richard R.; Aufox, Sharon A.; Bland, Sarah T.; Blout, Carrie; Bowen, Deborah J.; Buchanan, Adam H.; Halverson, Colin; Harr, Margaret; Hebbring, Scott J.; Henrikson, Nora; Hoell, Christin; Holm, Ingrid A.; Jarvik, Gail; Kullo, Iftikhar J.; Kochan, David C.; Larson, Eric B.; Lazzeri, Amanda; Leppig, Kathleen A.; Madden, Jill; Marasa, Maddalena; Myers, Melanie F.; Peterson, Josh; Prows, Cynthia A.; Kulchak Rahm, Alanna; Ralston, James; Milo Rasouly, Hila; Scrol, Aaron; Smith, Maureen E.; Sturm, Amy; Stuttgen, Kelsey; Wiesner, Georgia; Williams, Marc S.; Wynn, Julia; Williams, Janet L.; Medicine, School of MedicineA challenge in returning genomic test results to research participants is how best to communicate complex and clinically nuanced findings to participants in a manner that is scalable to the large numbers of participants enrolled. The purpose of this study was to examine the features of genetic results letters produced at each Electronic Medical Records and Genomics (eMERGE3) Network site to assess their readability and content. Letters were collected from each site, and a qualitative analysis of letter content and a quantitative analysis of readability statistics were performed. Because letters were produced independently at each eMERGE site, significant heterogeneity in readability and content was found. The content of letters varied widely from a baseline of notifying participants that results existed to more detailed information about positive or negative results, as well as materials for sharing with family members. Most letters were significantly above the Centers for Disease Control-suggested reading level for health communication. While continued effort should be applied to make letters easier to understand, the ongoing challenge of explaining complex genomic information, the implications of negative test results, and the uncertainty that comes with some types of test and result makes simplifying letter text challenging.Item Who Pays? Coverage Challenges for Cardiovascular Genetic Testing in U.S. Patients(Frontiers Media SA, 2016) Spoonamore, Katherine G.; Johnson, Nicole M.; Department of Medicine, IU School of MedicineInherited cardiovascular (CV) conditions are common, and comprehensive care of affected families often involves genetic testing. When the clinical presentations of these conditions overlap, genetic testing may clarify diagnoses, etiologies, and treatments in symptomatic individuals and facilitate the identification of asymptomatic, at-risk relatives, allowing for often life-saving preventative care. Although some professional society guidelines on inherited cardiac conditions include genetic testing recommendations, they quickly become outdated owing to the rapid expansion and use of such testing. Currently, these guidelines primarily discuss the benefits of targeted genetic testing for identifying at-risk relatives. Although most insurance policies acknowledge the benefit and the necessity of this testing, many exclude coverage for testing altogether or are vague about coverage for testing in probands, which is imperative if clinicians are to have the best chance of accurately identifying pathogenic variant(s) in a family. In response to uncertainties about coverage, many commercial CV genetic testing laboratories have shouldered the burden of working directly with commercial payers and protecting patients/institutions from out-of-pocket costs. As a result, many clinicians are unaware that payer coverage policies may not match professional recommendations for CV genetic testing. This conundrum has left patients, clinicians, payers, and laboratories at an impasse when determining the best path forward for meaningful and sustainable testing. Herein, we discuss the need for all involved parties to recognize their common goals in this process, which should motivate collaboration in changing existing frameworks and creating more sustainable access to genetic information for families with inherited CV conditions.