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Emergency medical genomes: a breakthrough application of precision medicine.

ABSTRACT: Today there exist two medical applications where relatively strong evidence exists to support the broad adoption of genome-informed precision medicine. These are the differential diagnosis of single gene diseases and genotype-based selection of patients for targeted cancer therapies. However, despite the availability of the $1000 genome and $700 exome for research, there is as yet little broad uptake of genomic medicine, even in these applications. Significant impediments to mainstream adoption exist, including unavailability in many institutions, lack of scalability in others, a dearth of physician understanding of interpreted genome or exome results or knowledge of how to translate consequent precision medicine care plans, and a lack of test reimbursement. In short, genomic medicine lacks a breakthrough application. Rapid genome sequencing of acutely ill infants with suspected genetic diseases (STATseq) may become that application when scaled to dozens of trios per day without loss of timeliness or accuracy. Also critical for broad adoption is embedding STATseq in software for timely patient ascertainment, augmented intelligence for interpretation, explanation of results for generalist physicians, and dynamic precision medicine decision support.

SUBMITTER: Kingsmore SF

PROVIDER: S-EPMC4520148 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature

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Emergency medical genomes: a breakthrough application of precision medicine.

Kingsmore Stephen F SF Petrikin Josh J Willig Laurel K LK Guest Erin E

Genome medicine 20150730 1

Today there exist two medical applications where relatively strong evidence exists to support the broad adoption of genome-informed precision medicine. These are the differential diagnosis of single gene diseases and genotype-based selection of patients for targeted cancer therapies. However, despite the availability of the $1000 genome and $700 exome for research, there is as yet little broad uptake of genomic medicine, even in these applications. Significant impediments to mainstream adoption ...[more]

PMID: 26229553

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Project description:IntroductionMedical professionalism is a core competency for emergency medicine (EM) trainees; but defining professionalism remains challenging, leading to difficulties creating objectives and performing assessment. Because professionalism is dynamic, culture-specific, and often taught by modeling, an exploration of trainees' perceptions can highlight their educational baseline and elucidate the importance they place on general conventional professionalism domains. To this end, our objective was to assess the relative value EM residents place on traditional components of professionalism.MethodsWe performed a cross-sectional, multi-institutional survey of incoming and graduating EM residents at four programs. The survey was developed using the American Board of Internal Medicine's "Project Professionalism" and the Accreditation Council of Graduate Medical Education definition of professionalism competency. We identified 27 attributes within seven domains: clinical excellence, humanism, accountability, altruism, duty and service, honor and integrity, and respect for others. Residents were asked to rate each attribute on a 10-point scale. We analyzed data to assess variance across attributes as well as differences between residents at different training levels or different institutions.ResultsOf the 114 residents eligible, 100 (88%) completed the survey. The relative value assigned to different professional attributes varied considerably, with those in the altruism domain valued significantly lower and those in the "respect for others" and "honor and integrity" valued significantly higher (p<0.001). Significant differences were found between interns and seniors for five attributes primarily in the "duty and service" domain (p<0.05). Among different residencies, significant differences were found with attributes within the "altruism" and "duty and service" domains (p<0.05).ConclusionResidents perceive differences in the relative importance of traditionally defined professional attributes and this may be useful to educators. Explanations for these differences are hypothesized, as are the potential implications for professionalism education. Because teaching professional behavior is taught most effectively via behavior modeling, faculty awareness of resident values and faculty development to address potential gaps may improve professionalism education.

Project description:BackgroundThe COVID-19 pandemic added new and great uncertainty to the typical approach to applying into emergency medicine (EM) for medical students. There are little data on students' lived experience of applying during this time period. We performed a multi-institutional survey of EM-bound students' experiences with preparing to apply into EM during the pandemic.MethodsThis was a cross-sectional survey design study of fourth-year students preparing to apply into EM during the 2020-2021 academic year. All self-identified EM-bound students at four participating institutions were recruited by email in June 2020 to participate in a 13-item, 5-point Likert-scale survey. Univariate descriptive statistics, response rate, and nonresponse bias were calculated.ResultsSixty-seven of 125 eligible students responded for an overall response rate of 53.6%. Nonresponse bias for specific survey items ranged from 0.01 to 0.12. Students rated the importance of securing an EM rotation at their home institution the highest of any item (mean ± SD = 4.81 ± 0.68). Students indicated higher satisfaction with advice from their department of EM (mean ± SD = 4.28 ± 0.75) than from their school of medicine (mean ± SD = 3.52 ± 0.89). Students indicated higher confidence in their home EM rotations' ability to assure adequate personal protective equipment (PPE; mean ± SD = 3.91 ± 0.83) than an away rotation (mean ± SD = 2.82, 1.09). Students reported feeling between moderately and quite stressed about applying into EM this year (mean ± SD = 3.49 ± 1.01), but reported the financial stress the lowest of any item (mean ± SD = 1.46 ± 0.84). Students rated it highly important that away rotations prioritize students from institutions without an EM residency (mean ± SD = 4.51 ± 0.93).ConclusionMedical students applying into EM during the COVID-19 pandemic felt confident in their EM advisors' recommendations and their home institution's PPE provision. Students with EM residency programs at their schools recognized the importance of away rotations being prioritized for students from schools without EM residency programs. Strong EM advising is important to students.

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Emergency medical genomes: a breakthrough application of precision medicine.

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Emergency medical genomes: a breakthrough application of precision medicine.

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