scholarly journals Enhancing the Impact of Genomics Research in Autism through Integration of Research Results into Routine Care Pathways—A Case Series

2021 ◽  
Vol 11 (8) ◽  
pp. 755
Author(s):  
Iskra Peltekova ◽  
Daniela Buhas ◽  
Lara Stern ◽  
Emily Kirby ◽  
Afiqah Yusuf ◽  
...  
Keyword(s):  
Clinical Care ◽  
Genetic Research ◽  
Case Series ◽  
Routine Care ◽  
Autism Spectrum ◽  
Care Pathways ◽  
Research Results ◽  
Individualized Care ◽  
The Impact ◽  
Genetic Results

The return of genetic results (RoR) to participants, enrolled as children, in autism research remains a complex process. Existing recommendations offer limited guidance on the use of genetic research results for clinical care. We highlight current challenges with RoR and illustrate how the use of a guiding framework drawn from existing literature facilitates RoR and the clinical integration of genetic research results. We report a case series (n = 16) involving the return of genetic results to participants in large genomics studies in Autism Spectrum Disorders (ASD). We outline the framework that guided RoR and facilitated integration into clinical care pathways. We highlight specific cases to illustrate challenges that were, or could have been, resolved through this framework. The case series demonstrates the ethical, clinical and practical difficulties of RoR in ASD genomic studies for participants enrolled as children. Challenges were resolved using pre-established framework to guide RoR and incorporate research genetic results into clinical care. We suggest that optimal use of genetic research results relies on their integration into individualized care pathways for participants. We offer a framework that attempts to bridge the gap between research and healthcare in ASD.

scholarly journals Solutions for Unexpected Challenges Encountered when Integrating Research Genomics Results into the EHR

ACI Open ◽  
2020 ◽  
Vol 04 (02) ◽  
pp. e132-e135
Author(s):  
Luke V. Rasmussen ◽  
Christin Hoell ◽  
Maureen E. Smith ◽  
Rex Chisholm ◽  
Justin Starren ◽  
...  
Keyword(s):  
Genetic Research ◽  
Lessons Learned ◽  
Return Of Results ◽  
Patient Portal ◽  
Test Results ◽  
Research Results ◽  
Genetic Test Results ◽  
Future Return ◽  
New Research ◽  
Genetic Results

Abstract Background While there have been published reports detailing technical challenges of incorporating genetic test results into the electronic health record (EHR) with proposed solutions, less has been published about unanticipated sociotechnological or practical communication challenges involved in this process. Objectives This study was aimed to describe unanticipated issues that arose returning genetic research results through the EHR as part of the National Human Genome Research Institute (NHGRI)-funded electronic Medical Records and Genomics (eMERGE) 3 consortium, and provide lessons learned for future implementations Methods We sequenced 3,000 participants on a 109-gene panel and returned genetic results initially in person and/or by letter, with a later release directly into the EHR and patient portal. Results When results were returned through the EHR, multiple participants expressed confusion and contacted the health system, resulting in our institution temporarily freezing our return of research results. Discussion We determined the likely causes of this issue to be (1) the delay between enrollment and results return, (2) inability to personalize mass e-mail messages announcing new research test results in the EHR, (3) limited space for description of test results in the EHR, and (4) the requirement to list an ordering physician for research results in the EHR. For future return of results, we propose sending preparatory e-mails to participants, including screenshots of how they can expect to see their results presented in the EHR portal. Conclusion We hope our lessons learned can provide helpful guidance to other sites implementing research genetic results into the EHR and can encourage EHR developers to incorporate greater flexibility in the future.

Ethical Issues in Genetic Research with Infants

2018 ◽  
pp. 155-171
Author(s):  
Erin Rothwell ◽  
Jeffrey R. Botkin
Keyword(s):  
Health Care ◽  
Genetic Testing ◽  
Ethical Issues ◽  
Genetic Research ◽  
Newborn Health ◽  
Research Use ◽  
Whole Genome ◽  
Use Of Data ◽  
The Impact ◽  
Genetic Results

There are a number of ethical issues raised when newborns participate in research. Two examples include genetic testing, and the storage and research use of biospecimens collected from newborns. This chapter highlights a range of ethical, legal, and social implications with these practices. Examples from retention of residual newborn screening bloodspots, use of biospecimens collected from infants in biomedical research, concerns with the use of whole genome sequencing, and challenges of consent during the newborn period are discussed. These issues are explored within the context of newborns who are healthy or newborns faced with an undiagnosed condition. At this time, more research is needed to understand the impact of genomics on newborn health care, the storage and use of data generated from biospecimens, and how genetic results from newborns impact families. Further challenges around consent and parental permission are also discussed.

scholarly journals Clinical characteristics and care pathways of patients with personality disorder who died by suicide

BJPsych Open ◽  
2020 ◽  
Vol 6 (2) ◽  
Author(s):  
Sandra Flynn ◽  
Jane Graney ◽  
Thabiso Nyathi ◽  
Jessica Raphael ◽  
Seri Abraham ◽  
...  
Keyword(s):  
Personality Disorder ◽  
Clinical Care ◽  
Case Series ◽  
Drug Misuse ◽  
Care Pathways ◽  
Short Term ◽  
Psychological Therapies ◽  
Patient Admissions ◽  
History Of ◽  
The Uk

Background It is estimated that 1 in 10 people have a personality disorder. People with emotionally unstable personality disorder are at high risk of suicide. Despite being frequent users of mental health services, there is often no clear pathway for patients to access effective treatments. Aims To describe the characteristics of patients with personality disorder who died by suicide, examine clinical care pathways and explore whether the care adhered to National Institute for Health and Care Excellence guidance. Method National consecutive case series (1 January 2013 to 31 December 2013). The study examined the health records and serious incident reports of patients with personality disorder who died by suicide in the UK. Results The majority had a diagnosis of borderline/emotionally unstable or antisocial personality disorder. A high proportion of patients had a history of self-harm (n = 146, 95%) and alcohol (n = 101, 66%) or drug misuse (n = 79, 52%). We found an extensive pattern of service contact in the year before death, with no clear pathway for patients. Care was inconsistent and there were gaps in service provision. In 99 (70%) of the 141 patients with data, the last episode of care followed a crisis. Access to specialised psychological therapies was limited; short-term in-patient admissions was adhered to; however, guidance on short-term prescribing for comorbid conditions was not followed for two-thirds of patients. Conclusions Continuity and stability of care is required to prevent, rather than respond to individuals in crisis. A comprehensive audit of services for people with personality disorder across the UK is recommended to assess the quality of care provided.

scholarly journals Protocol: New approaches to managing the social deficits of Turner Syndrome using the PEERS program

F1000Research ◽  
2018 ◽  
Vol 7 ◽  
pp. 1864
Author(s):  
Jeanne Wolstencroft ◽  
William Mandy ◽  
David Skuse
Keyword(s):  
Social Skills ◽  
Turner Syndrome ◽  
Sex Chromosome ◽  
Controlled Trial ◽  
Clinical Care ◽  
Case Series ◽  
Autism Spectrum ◽  
Autism Spectrum Conditions ◽  
Small Scale ◽  
Intervention Programme

Turner Syndrome (TS) is a sex chromosome aneuploidy (45,X) associated with social skill difficulties. Recent clinical care guidelines recommend that the Program for the Education and Enrichment of Relational Skills (PEERS) social skills intervention programme be trialled in this population. PEERS has been successfully used in adolescents with autism spectrum conditions without intellectual disabilities. The PEERS program will be piloted with adolescents and young women with TS aged 16-20 using an uncontrolled study trial with a multiple-case series design. The program will be delivered face to face and online. The assessment battery is designed to measure social skills comprehensively from diverse informants (parent, teacher young person). It includes measures of social performance, social knowledge and social cognition. Parents and young people taking part in the intervention will also feedback on the acceptability and feasibility of the pilot. The outcomes of this small scale pilot (n=6-10) will be used to adapt the programme based on feedback and estimate the sample for a future randomised controlled trial.

scholarly journals The 2018 ter Brugge Lecture: Problems with the Introduction of Innovations in Neurovascular Care

2019 ◽  
Vol 46 (2) ◽  
pp. 151-158 ◽  
Author(s):  
Jean Raymond ◽  
Robert Fahed ◽  
Daniel Roy ◽  
Tim E. Darsaut
Keyword(s):  
Randomized Clinical Trials ◽  
Clinical Care ◽  
Case Series ◽  
Epidemiological Studies ◽  
Eligibility Criteria ◽  
Research Results ◽  
Perfusion Studies ◽  
Entire Line ◽  
Explanatory Trials ◽  
Improve Patient

ABSTRACT:Most endovascular innovations have been introduced into clinical care by showing good outcomes in small enthusiastic case series of selected patients. Randomized clinical trials (RCTs) have rarely been performed, except for acute ischemic stroke, but even then most trial designs were too explanatory to inform clinical decisions. In this article, we review 2 × 2 tables and forest plots that summarize RCT results to examine methodological issues in the design and interpretation of clinical studies. Research results can apply in practice when RCTs are all-inclusive, pragmatic trials. Common problems include the following: (i) using restrictive eligibility criteria in explanatory trials, instead of including the diversity of patients in need of care, which hampers future generalizability of results; (ii) ignoring an entire line of the 2 × 2 table and excluding patients who do not meet the proposed criteria of a diagnostic test in its evaluation (perfusion studies) which renders clinical inferences misleading; (iii) ignoring an entire column of the 2 × 2 table and comparing different patients treated using the same treatment instead of different treatments in the same patients (the “wrong axis” comparisons of prognostic studies and clinical experience) which leads to unjustified treatment decisions and actions; or (iv) combining all aforementioned problems (case series and epidemiological studies). The most efficient and reliable way to improve patient outcomes, after as well as long before research results are available, is to change the way we practice: to use care trials to guide care in the presence of uncertainty.

scholarly journals When research seems like clinical care: a qualitative study of the communication of individual cancer genetic research results

2008 ◽  
Vol 9 (1) ◽  
Author(s):  
Fiona A Miller ◽  
Mita Giacomini ◽  
Catherine Ahern ◽  
Jason S Robert ◽  
Sonya de Laat
Keyword(s):  
Qualitative Study ◽  
Clinical Care ◽  
Genetic Research ◽  
Cancer Genetic ◽  
Research Results

scholarly journals Return of Genetic Research Results to Participants and Families: IRB Perspectives and Roles

2015 ◽  
Vol 43 (3) ◽  
pp. 502-513 ◽  
Author(s):  
Laura M. Beskow ◽  
P. Pearl O'Rourke
Keyword(s):  
Genetic Information ◽  
Genetic Research ◽  
Family Members ◽  
Research Process ◽  
Secondary Users ◽  
Consent Forms ◽  
Research Results ◽  
Considerable Debate ◽  
The Subject ◽  
Genetic Results

Whether or not to offer individual genetic results to research participants has been the subject of considerable debate, yet consensus regarding what, when, and how to return remains elusive. Despite this lack of clarity, the discussion has moved to the offer of research results to family members of participants, including when the participant is deceased. Given the familial implications of genetic information, this extension is perhaps logical. But it raises concerns throughout the research process, including, for example, questions about disclosures and choices on consent forms, procedures for identifying and contacting family members, and how any such obligations might apply to secondary users of biospecimens and data.

scholarly journals Participants’ Preferences and Reasons for Wanting Feedback of Individual Genetic Research Results From an HIV-TB Genomic Study: A Case Study From Botswana

2021 ◽  
Vol 16 (5) ◽  
pp. 525-536
Author(s):  
Dimpho Ralefala ◽  
Mary Kasule ◽  
Olivia P. Matshabane ◽  
Ambroise Wonkam ◽  
Mogomotsi Matshaba ◽  
...  
Keyword(s):  
Qualitative Study ◽  
Ethical Issue ◽  
Genetic Research ◽  
Research Results ◽  
Genomic Study ◽  
Genomics Research ◽  
Almost All ◽  
To Receive ◽  
Genetic Results

The feedback of individual results of genomics research is an ethical issue. However, which genetic results African participants would like to receive and why, remains unclear. A qualitative study was conducted to collect data from 44 adolescents and 49 parents/caregivers of adolescents enrolled in a genomic study in Botswana. Almost all the participants wanted to receive genetic results. Parents and caregivers wanted to receive results across all categories of genetic conditions discussed in the study, while adolescents were reluctant to receive results for severe, non-preventable, and unactionable conditions. Participants expressed different reasons for wanting feedback of results, including for awareness, improving lifestyle, accepting one’ situation, and preparing for the future. Our findings also reveal that participants’ context, relations, and empowerment are important to consider in interpreting their preferences for feedback of results.

scholarly journals Translating genetic and preclinical findings into autism therapies

2017 ◽  
Vol 19 (4) ◽  
pp. 335-343
Keyword(s):  
Neurodevelopmental Disorder ◽  
Genetic Research ◽  
Autism Spectrum ◽  
In Vitro Models ◽  
Valuable Insight ◽  
Current State ◽  
Copy Number Changes ◽  
The Impact

Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder characterized by social deficits and repetitive/restrictive interests. ASD is associated with multiple comorbidities, including intellectual disability, anxiety, and epilepsy. Evidence that ASD is highly heritable has spurred major efforts to unravel its genetics, revealing possible contributions from hundreds of genes through rare and common variation and through copy-number changes. In this perspective, we provide an overview of the current state of ASD genetics and of how genetic research has spurred the development of in vivo and in vitro models using animals and patient cells to evaluate the impact of genetic mutations on cellular function leading to disease. Efforts to translate these findings into successful therapies have yet to bear fruit. We discuss how the valuable insight into the disorder provided by these new models can be used to better understand ASD and develop future clinical trials.

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