CHARTING PATHS: REFLEXIVE STANDARDIZATION IN THE GENOMICS CLINIC AMID UNCERTAINTY

Authors

  • Helmi Heikkinen Faculty of Social Sciences, University of Helsinki—Sociology, Unioninkatu, Finland

Keywords:

Genomics clinic, reflexive standardization, uncertainty

Abstract

This study delves into the dynamic landscape of reflexive standardization within the genomics clinic, aiming to navigate uncertainty while ensuring optimal patient care. Genomic medicine presents unique challenges due to the complexity and variability of genetic information. Reflexive standardization, characterized by ongoing adaptation and refinement of protocols and practices based on experiential learning and feedback, emerges as a crucial strategy for addressing uncertainty in genomic diagnosis and treatment. Through qualitative research methods, including interviews and observations, this study explores how healthcare professionals engage in reflexive standardization to manage uncertainty and enhance clinical outcomes in the genomics clinic. Key findings underscore the importance of collaborative learning, interdisciplinary communication, and continuous quality improvement initiatives in fostering reflexive standardization practices. Insights from this research contribute to the ongoing evolution of genomic medicine and inform strategies for optimizing patient care in the face of uncertainty.

Downloads

Download data is not yet available.

References

Abraham J. (1993). Scientific standards and institutional interests: Carcinogenic risk assessment of Benoxaprofen in the UK and US. Social Studies of Science, 23(3), 387–444.

Bahcall O. (2016). ExAC boosts clinical variant interpretation in rare diseases. Nature Reviews Genetics, 17, 584.

Castel P. (2009). What’s behind a guideline? Authority, competition and collaboration in the French oncology sector. Social Studies of Science, 39(5), 743–764.

Cheon J. Y., Mozersky J., Cook-Deegan R. (2014). Variants of uncertain significance in BRCA: A harbinger of ethical and policy issues to come? Genetics in Medicine, 6, 121.

Davies S. C. (2017). Generation genome: Annual report of the chief medical officer 2016. Department of Health.

Domchek S., Weber B. L. (2008). Genetic variants of uncertain significance: Flies in the ointment. Journal of Clinical Oncology, 26(1), 16–17.

Amendola, L. M., Berg, J. S., Horowitz, C. R., Angelo, F., Bensen, J. T., Biesecker, B. B., ... & Green, R. C. (2018). The Clinical Sequencing Evidence-Generating Research Consortium: Integrating genomic sequencing in diverse and medically underserved populations. The American Journal of Human Genetics, 103(3), 319-327.

Gray, S. W., Park, E. R., Najita, J., Martins, Y., Traeger, L., Bair, E., ... & Pirl, W. F. (2016). Oncologists’ and cancer patients’ views on whole-exome sequencing and incidental findings: Results from the CanSeq study. Genetics in Medicine, 18(10), 1011-1019.

Green, R. C., Berg, J. S., Grody, W. W., Kalia, S. S., Korf, B. R., Martin, C. L., ... & Biesecker, L. G. (2013). ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genetics in Medicine, 15(7), 565-574.

Ormond, K. E., & Wheeler, M. T. (2018). Contextualizing evidence and ethics in genomics: What do we mean by “actionable”?. Journal of Law, Medicine & Ethics, 46(2), 307-318.

Ross, L. F., Rothstein, M. A., Clayton, E. W., & Burke, W. (2013). Incidental findings in genomic research: Information and management. JAMA, 310(4), 365-366.

Shirts, B. H., Salama, J. S., Aronson, S. J., Chung, W. K., Gray, S. W., Hindorff, L. A., ... & Sharp, R. R. (2019). CSER and eMERGE: Current and potential state of the display of genetic information in the electronic health record. The Journal of the American Medical Informatics Association, 26(1), 44-49.

Stark, Z., Boughtwood, T., Phillips, P., Christodoulou, J., Hansen, D. P., Braithwaite, J., ... & Lunke, S. (2019). Australian Genomics: A federated model for integrating genomics into healthcare. The American Journal of Human Genetics, 105(1), 7-14.

Vassy, J. L., Christensen, K. D., Schonman, E. F., Blout, C. L., Robinson, J. O., Krier, J. B., ... & Green, R. C. (2017). The impact of whole-genome sequencing on the primary care and outcomes of healthy adult patients: A pilot randomized trial. Annals of Internal Medicine, 167(3), 159-169.

Wolf, S. M., & Branum, R. (2018). Return of individual research results and incidental findings: Facing the challenges of translational science. Annual Review of Genomics and Human Genetics, 19, 235-252.

Ziniel, S. I., Savage, S. K., Huntington, N. L., Amatruda, J. G., Green, R. C., & Weitzman, E. R. (2014). Parents’ preferences for return of results in pediatric genomic research. Public Health Genomics, 17(2), 105-114.

Downloads

Published

2022-01-01

How to Cite

Helmi Heikkinen. (2022). CHARTING PATHS: REFLEXIVE STANDARDIZATION IN THE GENOMICS CLINIC AMID UNCERTAINTY. Journal of Applied Science and Social Science, 12(01), 01–07. Retrieved from https://www.internationaljournal.co.in/index.php/jasass/article/view/118