Physician Scientists In Hematology: Hematologists' Experiences of Research and Recruitment to Academia - A Mixed Methods, Qualitative Approach

Blood ◽  
2010 ◽  
Vol 116 (21) ◽  
pp. 2570-2570
Author(s):  
Tom Butler ◽  
John G. Gribben ◽  
Ann Hodgson
Keyword(s):  
Focus Groups ◽  
Academic Medicine ◽  
Research Funding ◽  
Clinical Skills ◽  
Local Network ◽  
Full Time ◽  
Research Experience ◽  
Medical Specialties ◽  
Physician Scientists

Abstract Abstract 2570 Physician-scientists spend a significant proportion of their time doing research, alongside clinical practice and teaching. Recruitment to academic medicine appears insufficient for workforce needs, with a perception of a 'crisis' in academic medicine (Andrew I. Schafer The Vanishing Physician Scientist 2009). Policy initiatives are in place to counter this recruitment problem and make an academic medicine career more attractive to trainees. Hematologists have a unique translational role in medicine and research, straddling the divide between laboratory and patient care. Since hematology may be inherently more academic compared to other medical specialties, this recruitment crisis may be more relevant to our specialty. Hematologists' experiences of research have been poorly reported. We employed mixed qualitative methods to explore hematologists' views on these issues, using focus groups (14 participants) to explore the experiences of research and higher degrees. Following themes from these, we used an online survey to gain quantitative data and obtained results from 39 hematologists in the local network in North East London serving approximately 4 million people, including two teaching hospitals. Among attendings, 72% had completed a research degree and 52% were in academic positions. Of trainees, 36% were enrolled in a higher degree program. The focus groups felt that hematology has a strong role in research because of the inherently lab-based aspects of the work, access to tissue for research and the history of translational research. The survey supported this, with most feeling that the lab experience facilitated the transition of hematologists to research, and 77% agreeing that 'compared to other medical specialities, hematology is more academic'. The focus groups explored the benefits of doing a research degree, such as a PhD. These included gains in critical thinking, data interpretation skills, a chance to study a topic in depth and CV development. Drawbacks included dislike of the work involved, financial loss and the stress of research. Some expressed concern about losing clinical skills during years of full-time research, whilst others felt that skills gained during research translated to better clinical acumen in the long term. The survey explored this further. 74% felt that whilst clinical acumen decreased during full-time research, this returned almost immediately on return to practice. 21% felt that clinical skills were better in the long term as a result of doing a PhD. Competition for non-academic hematology posts in the UK is low, and most doctors who do research will not become academics. However, there are expectations that hematologists need a research experience to further their careers, and most participants felt that there was greater pressure for hematologists to do research compared to other disciplines, with this pressure greater in London. We considered this perception of pressure in the context of UK research funding. The Royal College of Pathologists estimate that of ≤450 million spent on UK cancer research, ≤50-100 million are spent on hematological malignancies. Research funding is therefore out of proportion to the disease burden of blood cancers (8% of cancer deaths). London has 31% of UK academic doctors, 5 medical schools and receives 33% of UK research funding. These data help explain the greater pressure (or opportunity) for hematologists to undertake research, particularly in London. We explored views on recruitment to academic medicine. Whilst ‘becoming an academic doctor’ was rated as the strongest motivation for hematologists to do a PhD, doctors who subsequently did not proceed to an academic career benefitted from the research experience. Whilst academic doctors felt that more hematologists need to do research and become academic doctors, this view was not held by non-academic hematologists (p<0.05). In conclusion, hematologists consider their specialty to be more academic, with the nature of the work facilitating research. Particular motivations drive hematologists to undertake research. The pressure to do research may be higher in hematology compared to other areas of medicine, despite low competition for jobs overall. Concerns about loss of clinical skills do not appear to be justified. The perception of a recruitment problem within academic hematology varies depending on whether academic or non-academic hematologists are surveyed. Disclosures: Gribben: Roche: Consultancy; Celgene: Consultancy; GSK: Honoraria; Napp: Honoraria.

scholarly journals 3292 Duke Integrated Physician-Scientist Development

2019 ◽  
Vol 3 (s1) ◽  
pp. 67-68
Author(s):  
Stephanie A. Freel ◽  
Michael Gunn ◽  
Andrew Alspaugh ◽  
Gowthami Arepally ◽  
Gerard Blobe ◽  
...  
Keyword(s):  
Medical Students ◽  
Focus Groups ◽  
Research Funding ◽  
Junior Faculty ◽  
Research Engagement ◽  
School Of Medicine ◽  
Funding Program ◽  
Research Careers ◽  
Physician Scientist ◽  
Physician Scientists

OBJECTIVES/SPECIFIC AIMS: 1.Identify barriers to pursuing research for physician trainees 2.Develop a sustainable pipeline of physician-scientists at Duke 3.Coordinate physician-scientist development programs across the School of Medicine under one central Office 4.Provide infrastructure and resources for all physician-scientists 5.Increase the number of MDs and MD/PhDs who pursue, succeed, and are retained in research METHODS/STUDY POPULATION: To establish a baseline understanding of the needs and concerns of physician-scientist trainees at Duke, we conducted focus groups using a standardized interview guide and thematic analysis. Findings from these focus groups were used to develop a framework for support, leading to the creation of the Office of Physician-Scientist Development (OPSD) housed centrally within the Duke School of Medicine. The OPSD integrates programs and resources for multiple populations including medical students, residents, fellows, junior faculty, and faculty mentors. Pipeline programs will also be developed to enhance research engagement in targeted student populations prior to medical school. RESULTS/ANTICIPATED RESULTS: A total of 45 students and faculty participated in the focus groups and structured interviews (1st year medical student, n=11; 4th year medical students, n=11; residents/fellows, n=13; junior faculty, n=11). While participants raised a number of specific issues, one key message emerged: non-PhD MDs in basic research felt they lacked opportunities for directed training. Moreover, they felt the need to teach themselves many critical skills through trial and error. This has led to perceptions that they cannot compete effectively with PhDs and MD-PhD scientists for research funding and positions. Consensus recommendations included: better guidance in choosing mentors, labs, and projects; central resource for information relevant to physician scientists; training specifically tailored to physician scientists conducting laboratory-based research; improved infrastructure and well-defined training pathways; and assistance with grant preparation. To-date, over 90 students, residents, and fellows have been identified who identify as laboratory-based physician scientists. Additional efforts are underway to identify and characterize the broader range of physician-scientist students and trainees at Duke. DISCUSSION/SIGNIFICANCE OF IMPACT: Our planning study revealed specific steps forward toward developing a robust community of physician-scientists at Duke. As a first step, the Dean of the School of Medicine has appointed an Associate Dean of Physician-Scientist Development to oversee a new Office of Physician-Scientist Development (OPSD) being launched in December of 2018. The OPSD will offer four primary programs. 1) A concierge mentoring program will assist new trainees in identifying research areas of interest and mentors. Trainees will receive periodic contact to provide additional support as needed and promote success. 2) A physician-scientist training program is being created to provide training specific to laboratory research skills as well as career and professional development training to complement existing clinical and translational research programs. 3) Integrated training pathways will provide additional mentored research training for those pursuing research careers. Pathways will capitalize on existing resources from R38 programs, while pursuing additional R38 and R25 support. 4) An MD-Scientist funding program has been developed to provide additional research funding and protected time for students pursuing a second research year. Through the support and programming offered by the OPSD, we anticipate decreased perceptions of barriers to pursuing a physician-scientist career and increased satisfaction with training opportunities. Over time, we expect such support to increase the number of MD students pursuing research as a career and the number of residents, fellows, and MD junior faculty remaining in research careers.

scholarly journals Supporting the Development of Physician-scientists

2021 ◽  
Vol 10 (2) ◽  
Author(s):  
Mimi Xiaoming Deng
Keyword(s):  
Research Funding ◽  
Medical Training ◽  
Clinical Excellence ◽  
Evidence Based ◽  
Clinical Investigator ◽  
Research Involvement ◽  
Research Mentorship ◽  
Physician Scientist ◽  
Physician Scientists

In the last decade, there has been a discrepancy between the increasing recognition for research involvement in medical training and the stagnation in the number physician-scientists. Health research funding cutbacks, inadequate mentorship, heavy schedules, and unfamiliarity with scientific methodology are obstacles that limit research interest amongst junior medical learners and cause attrition of promising physician-scientist in training. This article outlines five strategies to promote and facilitate the development of physician-scientists with the understanding that research is integral to clinical excellence. Some of the ways the undergraduate and postgraduate medical curricula can better lend themselves to producing clinicians with the skillset to address clinical uncertainties through an evidence-based approach are: partnerships between healthcare and academia, increasing admission to MD/PhD and Clinical Investigator programs, establishing fundamentals of scientific thinking, long-term research mentorship, facilitating knowledge translation.

scholarly journals Impact of Residual Effects and Complications of Thrombotic Thrombocytopenic Purpura (TTP) on Daily Living: A Qualitative Study

Blood ◽  
2019 ◽  
Vol 134 (Supplement_1) ◽  
pp. 931-931
Author(s):  
Deirdra Terrell ◽  
Spero Cataland ◽  
Laura Beebe ◽  
San Keller ◽  
Julie Panepinto ◽  
...  
Keyword(s):  
Cognitive Impairment ◽  
Focus Group ◽  
Focus Groups ◽  
Thrombotic Thrombocytopenic Purpura ◽  
Daily Living ◽  
Research Funding ◽  
Full Range ◽  
High Impact ◽  
Thrombocytopenic Purpura

Introduction: Adverse health outcomes following recovery from thrombotic thrombocytopenic purpura (TTP) are under-recognized. The Oklahoma (OK) TTP Registry has documented that patients have residual complications following recovery. TTP survivors have an increased prevalence of major depression, decreased quality of life, minor cognitive impairment, and a decreased life expectancy compared to the general population. Additionally, Chaturvedi et. al (2017), reported that 32% of TTP survivors met the provisional diagnosis of post-traumatic stress disorder related to their TTP. Yet studies have failed to assess the significance of residual complications from the survivor's perspective. The goal of this study was to determine from the survivor's perspective, long-term outcomes that impact daily activities during remission. Patients: TTP survivors were recruited from the OK Registry and the Ohio State University (OSU) TTP Research Program. Eligibility included: 1) age &gt;18 years, 2) documented ADAMTS13 deficiency, 3) in clinical remission from TTP, and 4) able to read and understand English. A non-probabilistic purposive sampling approach was utilized to select survivors from whom the most could be learned. To understand the full range of health challenges during remission, we intentionally included &gt; 1 person who had experienced a TTP relapse in each focus group. Methods: Qualitative focus groups were conducted using a semi-structured discussion guide to facilitate and standardize the discussion. Prior to use, the discussion guide was pilot-tested and revised accordingly. All the focus groups were conducted in-person and moderated by the first author. During the focus group, TTP survivors described symptoms following recovery. All of the mentioned symptoms were transferred to index cards and given to each person. Patients individually sorted the cards into 'high', 'medium', and 'low' impact on daily living. Next, patients discussed views on what makes a symptom high, medium, or low impact. Additionally, patients were asked to list their top 3 symptoms on an index card (regardless of if it had been previously mentioned). Patients were also asked about discussions with their physicians regarding these symptoms. Frequencies were calculated for quantitative responses. Qualitative data were analyzed for themes. Results: Focus groups (4 in OK; 3 in OSU) were conducted from May-Oct. 2018, were 54-94 minutes, and digitally recorded. Overall, there were 25 patients (76% female, 52% black, median age 46 years) (Table 1). Eighty percent of patients were &gt;5 years from their last episode, 52% had experienced a TTP relapse. The top 2 symptoms listed on the cards were: cognitive impairment 19/25 (76%) and fatigue 17/25 (68%). These symptoms were ranked as high in patients who were both &lt; and &gt;5 years from their last episode. High-impact symptoms occurred daily and negatively affected self-esteem, relationships, and careers. In 6/7 focus groups, survivors described high-impact symptoms caused feelings of being a burden, embarrassment, depression, and anxiety. Fatigue kept survivors from activities with loved ones and the hobbies they enjoyed prior to TTP. Cognitive impairment was described as difficulty 'getting the right words out', forming complete thoughts, and problems with memory and concentration. Cognitive impairment often resulted in arguing and frustration with loved ones. In 4/7 focus groups, memory and concentration problems were detrimental to marriages/long-term relationships. In 5/7 focus groups, cognitive impairment significantly impacted a person's ability to do their job. In 1 focus group, patients who worked in healthcare stated they changed careers because they feared their memory problems would negatively impact the health of others. Yet, many patients were hesitant to discuss these symptoms with a physician because they: 1) did not want to complain, 2) did not want to be prescribed additional medication, and 3) did not think these symptoms were relevant to their 'blood doctor'. Conclusion: Cognitive impairment and fatigue have serious impacts on daily living even &gt;5 years after TTP. Yet, patients were often hesitant to discuss the issues with their doctor and failed to connect these symptoms with the TTP recovery process. Phase II of this study is currently underway, the goal is to identify from the TTP survivor's perspective, preferred ways to assess and manage these symptoms. Disclosures Terrell: National Institutes of Health: Research Funding. Cataland:Alexion: Consultancy, Research Funding; Ablynx/Sanofi: Consultancy, Research Funding. Panepinto:NIH: Research Funding.

Stability and Change in Emotional Intelligence: Exploring the Transition to Young Adulthood

2005 ◽  
Vol 26 (2) ◽  
pp. 100-106 ◽  
Author(s):  
James D.A. Parker ◽  
Donald H. Saklofske ◽  
Laura M. Wood ◽  
Jennifer M. Eastabrook ◽  
Robyn N. Taylor
Keyword(s):  
High School ◽  
Emotional Intelligence ◽  
Postsecondary Education ◽  
Life Transition ◽  
Full Time ◽  
Major Life ◽  
Long Term Stability ◽  
Time Period ◽  
Transition From High School

Abstract. The concept of emotional intelligence (EI) has attracted growing interest from researchers working in various fields. The present study examined the long-term stability (32 months) of EI-related abilities over the course of a major life transition (the transition from high school to university). During the first week of full-time study, a large group of undergraduates completed the EQ-i:Short; 32 months later a random subset of these students (N = 238), who had started their postsecondary education within 24 months of graduating from high school, completed the measures for a second time. The study found EI scores to be relatively stable over the 32-month time period. EI scores were also found to be significantly higher at Time 2; the overall pattern of change in EI-levels was more than can be attributed to the increased age of the participants.

Problems of Distance Education

2018 ◽  
Vol 7 (1) ◽  
pp. 14-23 ◽  
Author(s):  
Rostislav Fojtík
Keyword(s):  
Distance Education ◽  
Distance Learning ◽  
Computer Science ◽  
Full Time ◽  
Advantages And Disadvantages ◽  
E Learning ◽  
Educational Requirements

Abstract Distance learning and e-learning have significantly developed in recent years. It is also due to changing educational requirements, especially for adults. The article aims to show the advantages and disadvantages of distance learning. Examples of the 20-year use of the distance learning form of computer science describe the difficulties associated with the implementation and implementation of this form of teaching. The results of students in the full-time and distance form of teaching in the bachelor’s study of computer science are compared. Long-term findings show that distant students have significantly lower scores in the first years of study than full-time bachelor students. In the following years of study, the differences diminish, and students’ results are comparable. The article describes the possibilities of improving the quality of distance learning.

Adult outcome after treatment of pediatric posterior fossa ependymoma: long-term follow-up of a single consecutive institutional series of 22 patients with more than 5 years of survival

2020 ◽  
Vol 26 (1) ◽  
pp. 22-26 ◽  
Author(s):  
Tryggve Lundar ◽  
Bernt Johan Due-Tønnessen ◽  
Radek Frič ◽  
Petter Brandal ◽  
Paulina Due-Tønnessen
Keyword(s):  
Proton Beam ◽  
Posterior Fossa ◽  
Adjuvant Treatment ◽  
Tumor Control ◽  
Full Time ◽  
Time Work ◽  
Long Term Follow Up ◽  
Long Term Survivors

OBJECTIVEEpendymoma is the third most common posterior fossa tumor in children; however, there is a lack of long-term follow-up data on outcomes after surgical treatment of posterior fossa ependymoma (PFE) in pediatric patients. Therefore, the authors sought to investigate the long-term outcomes of children treated for PFE at their institution.METHODSThe authors performed a retrospective analysis of outcome data from children who underwent treatment for PFE and survived for at least 5 years.RESULTSThe authors identified 22 children (median age at the time of surgery 3 years, range 0–18 years) who underwent primary tumor resection of PFE during the period from 1945 to 2014 and who had at least 5 years of observed survival. None of these 22 patients were lost to follow-up, and they represent the long-term survivors (38%) from a total of 58 pediatric PFE patients treated. Nine (26%) of the 34 children treated during the pre-MRI era (1945–1986) were long-term survivors, while the observed 5-year survival rate in the children treated during the MRI era (1987–2014) was 13 (54%) of 24 patients. The majority of patients (n = 16) received adjuvant radiotherapy, and 4 of these received proton-beam irradiation. Six children had either no adjuvant treatment (n = 3) or only chemotherapy as adjuvant treatment (n = 3). Fourteen patients were alive at the time of this report. According to MRI findings, all of these patients were tumor free except 1 patient (age 78 years) with a known residual tumor after 65 years of event-free survival.Repeat resections for residual or recurrent tumor were performed in 9 patients, mostly for local residual disease with progressive clinical symptoms; 4 patients underwent only 1 repeated resection, whereas 5 patients each had 3 or more resections within 15 years after their initial surgery. At further follow-up, 5 of the patients who underwent a second surgery were found to be dead from the disease with or without undergoing additional resections, which were performed from 6 to 13 years after the second procedure. The other 4 patients, however, were tumor free on the latest follow-up MRI, performed from 6 to 27 years after the last resection. Hence, repeated surgery appears to increase the chance of tumor control in some patients, along with modern (proton-beam) radiotherapy. Six of 8 patients with more than 20 years of survival are in a good clinical condition, 5 of them in full-time work and 1 in part-time work.CONCLUSIONSPediatric PFE occurs mostly in young children, and there is marked risk for local recurrence among 5-year survivors even after gross-total resection and postoperative radiotherapy. Repeated resections are therefore an important part of treatment and may lead to persistent tumor control. Even though the majority of children with PFE die from their tumor disease, some patients survive for more than 50 years with excellent functional outcome and working capacity.

scholarly journals Authorship inequality: a bibliometric study of the concentration of authorship among a diminishing number of individuals in high-impact medical journals, 2008–2019

BMJ Open ◽  
2021 ◽  
Vol 11 (1) ◽  
pp. e046002
Author(s):  
Kamber L Hart ◽  
Roy H Perlis
Keyword(s):  
Research Funding ◽  
High Impact ◽  
High Impact Journal ◽  
Medical Journals ◽  
Medical Specialties ◽  
Academic Medical ◽  
Rate Of Increase ◽  
Number Of Publications ◽  
Author Position ◽  
Number Of Individuals

ObjectiveAuthorship and number of publications are important criteria used for making decisions about promotions and research funding awards. Given the increase in the number of author positions over the last few decades, this study sought to determine if there had been a shift in the distribution of authorship among those publishing in high-impact academic medical journals over the last 12 years.DesignThis study analysed the distribution of authorship across 312 222 original articles published in 134 medium-impact to high-impact academic medical journals between 1 January 2008 and 31 December 2019. Additionally, this study compared the trends in author distributions across nine medical specialties and a collection of cross-specialty high-impact journal articles.Primary outcome measuresThe distribution of authorship was assessed using the Gini coefficient (GC), a widely used measure of economic inequality.ResultsThe overall GC for all articles sampled across the 12-year study period was 0.49, and the GCs for the first and last authorship positions were 0.30 and 0.44, respectively. Since 2008, there was a significant positive correlation between year and GC for the overall authorship position (r=0.99, p<0.001) the first author position (r=0.75, p=0.007) and the last author position (r=0.85, p<0.001) indicating increasingly uneven distribution in authorship over time. The cross-specialty high-impact journals exhibited the greatest rate of increase in GC over the study period for the first and last author position of any specialty analysed.ConclusionOverall, these data suggest a growing inequality in authorship across authors publishing in high-impact academic medical journals, especially among the highest impact journals. These findings may have implications for processes such as promotions and allocation of research funding that use authorship metrics as key criteria for making decisions.

scholarly journals The Development and Testing of KNACC: Knowledgeable Nursing Assistants as Creative Caregivers

2020 ◽  
Vol 4 (Supplement_1) ◽  
pp. 675-675
Author(s):  
Jacqueline Eaton ◽  
Kristin Cloyes ◽  
Brooke Paulsen ◽  
Connie Madden ◽  
Lee Ellington
Keyword(s):  
Focus Groups ◽  
Long Term Care ◽  
Family Members ◽  
Nursing Assistants ◽  
Direct Care ◽  
Term Care ◽  
Memory Care

Abstract Nursing assistants (NAs) provide 80% of direct care in long-term care settings, yet are seldom viewed as skilled professionals. Empowering NAs is linked to improved resident outcomes. In this study, we collaborate with NAs to adapt and test the feasibility and acceptability of arts-based creative caregiving techniques (CCG) for use in long-term care. We held a series of focus groups (n=14) to adapt, refine, and enhance usability. We then evaluated implementation in two waves of testing (n=8). Those working in memory care units were more likely to use all techniques, while those working in rehabilitation were more hesitant to implement. Participants reported using CCG to distract upset residents. Family members were excited about implementation, and NAs not participating wanted to learn CCG. Nursing assistants have the potential to become experts in creative caregiving but may require in-depth training to improve use.

scholarly journals Student Perceived Value of Anatomy Pedagogy, Part I: Prosection or Dissection?

2015 ◽  
Vol 2 ◽  
pp. JMECD.S17496 ◽  
Author(s):  
Jonathan J. Wisco ◽  
Stephanie Young ◽  
Paul Rabedeaux ◽  
Seth D. Lerner ◽  
Paul F. Wimmers ◽  
...  
Keyword(s):  
Medical Education ◽  
Medical School ◽  
Student Perceptions ◽  
Medical Curriculum ◽  
Clinical Skills ◽  
School Experience ◽  
First Year ◽  
Biomedical Sciences ◽  
Medical Specialties ◽  
Preclinical Medical Education

A series of three annual surveys of David Geffen School of Medicine (DGSOM) at UCLA students and UCR/UCLA Thomas Haider Program in Biomedical Sciences students were administered from 2010 to 2012 to ascertain student perceptions of which anatomy pedagogy—prosection or dissection—was most valuable to them during the first year of preclinical medical education and for the entire medical school experience in general. Students were asked, “What value does gross anatomy education have in preclinical medical education?” We further asked the students who participated in both prosection and dissection pedagogies, “Would you have preferred an anatomy curriculum like the Summer Anatomy Dissection during your first year in medical school instead of prosection?” All students who responded to the survey viewed anatomy as a highly valued part of the medical curriculum, specifically referring to four major themes: Anatomy is (1) the basis for medical understanding, (2) part of the overall medical school experience, (3) a bridge to understanding pathology and physiology, and (4) the foundation for clinical skills. Students who participated in both prosection and dissection pedagogies surprisingly and overwhelmingly advocated for a prosection curriculum for the first year of medical school, not a dissection curriculum. Time efficiency was the dominant theme in survey responses from students who learned anatomy through prosection and then dissection. Students, regardless of whether interested in surgery/radiology or not, appreciated both pedagogies but commented that prosection was sufficient for learning basic anatomy, while dissection was a necessary experience in preparation for the anatomical medical specialties. This suggests that anatomy instruction should be integrated into the clinical years of medical education.

scholarly journals How do non-geneticist physicians deal with genetic tests? A qualitative analysis

2021 ◽  
Author(s):  
Laurent Pasquier ◽  
Guy Minguet ◽  
Sylvie Moisdon-Chataigner ◽  
Pascal Jarno ◽  
Philippe Denizeau ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Social Issues ◽  
Clinical Skills ◽  
Rapid Development ◽  
Genomic Medicine ◽  
Genetic Tests ◽  
Simple Fact ◽  
Medical Specialties ◽  
Management Procedure ◽  
Testing Practices

AbstractGenetic testing is accepted to be a common practice in many medical specialties. These genetic tests raise issues such as respect for basic rights, how to handle results and uncertainty and how to balance concerns for medical confidentiality with the rights of third parties. Physicians need help to deal with the rapid development of genomic medicine as most of them have received no specific training on the medical, ethical, and social issues involved. Analyzing how these professionals integrate genetic testing into the patient-provider relationship is essential to paving the way for a better use of genomics by all. We conducted a qualitative study comprising a series of focus groups with 21 neurologists and endocrinologists about their genetic testing practices in the western part of France. The interviews were transcribed and analyzed for major themes. We identified an automated care management procedure of genetic testing that affects patient autonomy. The simple fact of having a written consent cannot justify a genetic test given the stakes associated with the results. We also suggest orienting practices toward a systemic approach using a multidisciplinary team or network to provide resources for dealing with uncertainties in interpreting results or situations that require additional technical or clinical skills and, if necessary, to allow for joint consultations with both a geneticist and a non-geneticist medical specialist.

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