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- Deborah Josko, Ph.D. MLT(ASCP)M, SM⇑
- Address for correspondence: Deborah Josko, Ph.D. MLT(ASCP)M, SM, Associate Professor, Department of Clinical Laboratory Sciences, Medical Laboratory Science Program, Rutgers, The State University of New Jersey – School of Health Related Professions 1776 Raritan Road, Scotch Plains, NJ 07076. (908) 889-2422. daj100{at}shrp.rutgers.edu.
Define personalized medicine.
Discuss various case scenarios where targeted therapy was initiated based on sequencing results.
Describe the advantages and disadvantages of genetic testing.
Summarize suggested guidelines when reporting sequencing results.
Extract
Introduction The completion of the Human Genome Project along with advances in DNA sequencing techniques and genetic testing have enabled clinicians to diagnose, treat, and monitor a patient's progression through the course of an illness or disease on a personal level. Clinicians now have the ability to counsel individuals and offer preventative options if a genetic test comes back positive. For example, if a woman tests positive for the breast cancer gene (BRAC 1 or BRAC 2) mutation leaving her at high risk for developing breast and/or ovarian cancer, she may decide to undergo a double mastectomy and/or a complete hysterectomy. By having knowledge of one's own genetic makeup, an individual has the ability to take preventative measures in order to lower the risk of developing the illness or disease in the future.
Genetic testing is useful when performed on amniotic fluid to determine if the developing fetus has a particular mutation. If an expecting couple receives news that their baby has the mutation that results in either Down syndrome or Tay Sach's disease, they may decide to abort. However, this scenario does not go without moral and ethical consequences.
This article will provide several case scenarios where next generation sequencing (NGS) was performed and used in treating a patient based on their own genetic make-up or the genetic make-up of the individual's cancer. In addition some of the ethical issues researchers face when using this technology will be discussed.
Definitions of Personalized Medicine According to the National Human Genome…
ABBREVIATIONS: AHQR - Agency for Health Care Research and Quality; ALL - acute lymphoblastic leukemia; AML - acute myeloid leukemia; APL- acute promyelocytic leukemia; ATRA - all-trans retinoic acid; BRAC - breast cancer gene; CANCP - solid tumor targeted cancer gene panel; CLIA - Clinical Laboratory Improvement Amendments; DNA - deoxyribonucleic acid; ERISA - Employee Retirement Income Security Act; FISH - fluorescent in situ hybridization; FDA - Food and Drug Administration; FLT3- fetal liver tyrosine kinase 3; HER2 - human epidermal growth factor receptor 2; GINA - Genetic Information Nondiscrimination Act; HIPAA - Health Insurance Portability and Accountability Act; HUGO - human genome organization; IRC - Internal Revenue Code; JAMA - Journal of the American Medical Association; MLO - Medical Laboratory Observer; NGS - next generation sequencing, PGM - Personal Genome Machine, PHSA - Public Health Service Act; RNA - ribonucleic acid; WGS - whole genome sequencing
Define personalized medicine.
Discuss various case scenarios where targeted therapy was initiated based on sequencing results.
Describe the advantages and disadvantages of genetic testing.
Summarize suggested guidelines when reporting sequencing results.
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