Future Medical Practice and Genetics.

Author: Alec J. Beaney

Author Affiliations: Norwich Medical School, Faculty of Medicine and health Sciences, University of East Anglia, Norwich, United Kingdom

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Corresponding Author: Alec J. Beaney; A.Beaney[at]uea.ac.uk

Key Words: medical student; breast cancer; single nucleotide polymorphisms; genome-wide association studies.

Abstract: Significant progress has been made in the rapidly evolving sub specialty of medical genetics. In this article, breast cancer has been used as an example to highlight recent developments in this field of medicine, with a discussion on the implications this has on medical practice and policy. The potential of medical genetics is staggering but not without its limitations, and we must consider all aspects of use before advancing further. Consequently, students and physicians alike need to have a thorough understanding of all components of clinical genetics in order to be ready for this new era of healthcare.

Published on date: May 31, 2014

Senior Editor: Michelle Dwyer

Junior Editor: Tina Chaalan

DOI: Pending

Citation: Beaney AJ. Future Medical Practice and Genetics. Medical Student Research Journal. 2014;3(Spring):47-50.

References:

1. Turnpenny P, Ellard S. Chapter 1: history and impact of genetics in medicine. In: Emery’s elements of medical genetics. 14th ed. Philadelphia, PA: Elsevier Churchill Livingstone; 2012, p. 3.

2. McCrimmon, O. NHGRI celebrates 10th anniversary of the Human Genome Project. 2013. Available from: http://www.genome.gov/27553526 [cited 20 April 2013].

3. Chui RW, Akolekar R, Zheng YW, Leung TY, Sun H, Chan KC, et al. Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study. BMJ 2011; 342: c7401.

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5. Ripperger T, Gadzicki D, Meindl A, Schlegelberger B. Breast cancer susceptibility: current knowledge and implications for genetic counselling. Eur J Hum Genet 2009; 17(6): 72231. http://dx.doi.org/10.1038/ejhg.2008.212.

6. Bradbury AR, Olopade OI. Genetic susceptibility to breast cancer. Rev Endocr Metab Disord 2007; 8(3): 25567. http://dx.doi.org/10.1007/s11154-007-9038-0.

7. Laronga C, Harness JK, Dixon M, Borgen PI. The role of the breast cancer surgeon in personalized cancer care: clinical utility of the 21-gene assay. Am J Surg 2012; 203(6): 7518. http://dx.doi.org/10.1016/j.amjsurg.2011.07.024.

8. Lo SS, Mumby PB, Norton J, Rychlik K, Smerage J, Kash J, et al. Prospective multicenter study of the impact of the 21-gene recurrence score assay on medical oncologist and patient adjuvant breast cancer treatment selection. J Clin Oncol 2010; 28: 16716. http://dx.doi.org/10.1200/JCO.2008.20.2119.

9. Antoniou AC, Easton DF. Models of genetic susceptibility to breast cancer. Oncogene 2006; 25: 5898905. http://dx.doi.org/10.1038/sj.onc.1209879.

10. Bartkova J, Tommiska J, Oplustilova L, Aaltonen K, Tamminen A, Heikkinen T, et al. Aberrations of the MRE11RAD50NBS1 DNA damage sensor complex in human breast cancer: MRE11 as a candidate familial cancer-predisposing gene. Mol Oncol 2008; 2(4): 296316. http://dx.doi.org/10.1016/j.molonc.2008.09.007

11. Petherick A. Environment and genetics: making sense of the noise. Nature 2012; 485: S645. http://dx.doi.org/10.1038/485S64a.

12. Chan IS, Ginsburg GS. Personalized medicine: progress and promise. Annu Rev Genomics Hum Genet 2011; 12: 217 44. http://dx.doi.org/10.1146/annurev-genom-082410-101446.

13. McClellan KA, Avard D, Simard J, Knoppers B. Personalised medicine and access to health care: potential for inequitable access? Eur J Hum Genet 2013; 21(2): 1437. http://dx.doi.org/10.1038/ejhg.2012.149.

14. Beauchamp TL, Childress JF. Chapter 1: moral norms. In: Principles of biomedical ethics. 5th ed. New York, NY: Oxford University Press; 2001, pp. 125.

15. Amir E, Freedman OC, Seruga B, Evans DG. Assessing women at high risk of breast cancer: a review of risk assessment models. J Natl Cancer Inst 2010; 102(10): 68091. http://dx.doi.org/10.1093/jnci/djq088.

16. Hudson KL. Prohibiting genetic discrimination. N Engl J Med 2007; 356(20): 20213.  http://dx.doi.org/10.1056/NEJMp078033.

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April 2013].

The Anatomy of a Patient.

Author: Scott C. Mauch

Author Affiliations: College of Human Medicine, Michigan State University, Grand Rapids, MI, USA

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Corresponding author: Scott C. Mauch; scott.mauch[at]gmail.com

Key Words: N/A

Abstract: My grandfather passed away the day after Christmas in 2012. He was a brilliant man who practiced medicine for several decades. During that time, he delivered thousands of babies, and even performed the amniocentesis on my mother when I was a fetus. Yet, in his last months, his failing health did not convey this brilliance. Parkinson’s disease and other neurological issues prevented my grandfather from speaking quickly or coherently. This was tough to witness, but it taught me an important lesson: there is much more to a patient than just the information contained in his/her medical file. This concept was the inspiration for my artwork.

Published on date: May 31, 2014

Senior Editor: N/A

Junior Editor: N/A

DOI: pending

Citation: Mauch SC. Anatomy of a Patient. Medical Student Research Journal. 2014;3(Spring):45-6.

References: Original artwork inspired by “Study of an Older Man” by John Norman Stewart, 2010 and Musculature of the face with the orbit of the eye” by Nicolas Henri Jacob, 1831.

Letter From the Editors.

Author: Kevin C Patterson.

Author Affiliations: College of Human Medicine, Michigan State University, East Lansing, MI, USA

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Corresponding Author: Kevin C. Patterson; patte297[at]gmail.com

Key Words: N/A

Abstract: With the wrap-up of the 2013-2014 academic year, we are proud of the strides that Medical Student Research Journal (MSRJ) has made. The journal has grown in the number of issues as well as in the number of articles published per issue. In addition, the breadth of article types and topics has greatly increased. This spring issue includes works from the Royal College of Surgeons in Ireland, University of the East Ramon, University of East Anglia Norwich Medical School, and Michigan State University College of Human Medicine.

Published on date: May 31, 2014

Senior Editor: N/A

Junior Editor: N/A

DOI: Pending

Citation: Patterson KC. Letter From the Editors. Medical Student Research Journal. 2014;3(Spring):44.

References: N/A