The challenge of integrating genetic medicine into primary care.
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ABSTRACT:
SUBMITTER: Emery J
PROVIDER: S-EPMC1120183 | biostudies-literature | 2001 Apr
REPOSITORIES: biostudies-literature
Publications
The challenge of integrating genetic medicine into primary care.
BMJ (Clinical research ed.) 20010401 7293
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Project description:Genetic services have historically been housed in tertiary care, requiring referral, which can present access barriers. While integrating genetics into primary care could facilitate access, many primary care physicians lack genomics expertise. Integrating genetic counsellors (GCs) into primary care could theoretically address these issues, but little is known about how to do this effectively. To understand and describe the process of integrating a GC into a multidisciplinary primary care setting, we qualitatively explored the perceptions, attitudes and reactions of existing team members prior to, and after the introduction of a GC. Semi-structured interviews were conducted immediately prior to (T1), and 9 months after (T2), the GC joining the clinic. Interviews were recorded, transcribed verbatim and analyzed concurrently with data collection using interpretive description. Twenty-four interviews were conducted with 17 participants (13 at T1, 11 at T2). Participants described several distinct, progressive stages of interaction with the GC: Disinterest or Resistance, Pre-Collaboration, Initial Collaboration, and Effective Collaboration/Integration of the GC into the team. At each stage, specific needs had to be met in order to advance to the next stage of collaboration. A variety of barriers and facilitators attended movement between different stages of the model. The Stepwise Process of Integration Model describes the process through which primary care staff and clinicians integrate a GC into their practice. The insight provided by this model could be used to facilitate more effective integration of GCs into other primary care settings.
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Project description:Professional and governmental organizations recommend an ideal US physician workforce composed of at least 40 % primary care physicians. They also support primary care residencies to promote careers in primary care. Our study examines the relationship between graduation from a primary care or categorical internal medicine residency program and subsequent career choice.We conducted a cross-sectional electronic survey of a cohort of internal medicine residency alumni who graduated between 2001 and 2010 from a large academic center. Our primary predictor was graduation from a primary care versus a categorical internal medicine program and our primary outcome is current career role. We performed chi-square analysis comparing responses of primary care and categorical residents.We contacted 481 out of 513 alumni, of whom 322 responded (67 %). We compared 106 responses from primary care alumni to 169 responses from categorical alumni. Fifty-four percent of primary care alumni agreed that the majority of their current clinical work is in outpatient primary care vs. 20 % of categorical alumni (p < 0.001). While 92.5 % of primary-care alumni were interested in a primary care career prior to residency, only 63 % remained interested after residency. Thirty of the 34 primary care alumni (88 %) who lost interest in a primary care career during residency agreed that their ambulatory experience during residency influenced their subsequent career choice.A higher percentage of primary care alumni practice outpatient primary care as compared to categorical alumni. Some alumni lost interest in primary care during residency. The outpatient clinic experience may impact interest in primary care.
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Project description:More reliable and cheaper sequencing technologies have revealed the vast mutational landscapes characteristic of many phenotypes. The analysis of such genetic variants has led to successful identification of altered proteins underlying many Mendelian disorders. Nevertheless the simple one-variant one-phenotype model valid for many monogenic diseases does not capture the complexity of polygenic traits and disorders. Although experimental and computational approaches have improved detection of functionally deleterious variants and important interactions between gene products, the development of comprehensive models relating genotype and phenotypes remains a challenge in the field of genomic medicine. In this context, a new view of the pathologic state as significant perturbation of the network of interactions between biomolecules is crucial for the identification of biochemical pathways associated with complex phenotypes. Seminal studies in systems biology combined the analysis of genetic variation with protein-protein interaction networks to demonstrate that even as biological systems evolve to be robust to genetic variation, their topologies create disease vulnerabilities. More recent analyses model the impact of genetic variants as changes to the "wiring" of the interactome to better capture heterogeneity in genotype-phenotype relationships. These studies lay the foundation for using networks to predict variant effects at scale using machine-learning or algorithmic approaches. A wealth of databases and resources for the annotation of genotype-phenotype relationships have been developed to support developments in this area. This overview describes how study of the molecular interactome has generated insights linking the organization of biological systems to disease mechanism, and how this information can enable precision medicine. This article is categorized under: Translational, Genomic, and Systems Medicine > Translational Medicine Biological Mechanisms > Cell Signaling Models of Systems Properties and Processes > Mechanistic Models Analytical and Computational Methods > Computational Methods.
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