Overview of Genomics What it is how it

Overview of Genomics What it is, how it began, pro/cons, and major ethical issues in the United States

Introduction • Preimplantation Genetic Testing: "genetic analysis of one or more cells from an oocyte or embryo and the genetic results are used to see which embryo gets implanted in the uterus" • Can be used to determine a genetic disorder within the parents. • Leading single cause of pregnancy loss.

• Try to only use in specific population, not in all women. • couples with unexplained pregnancy losses, repeated implantation problems for IVF, couples who are using IVF who only want a single embryo transfer, male infertility, and couples already undergoing preimplantation genetic testing.

• Sex selection and the use of genetic testing. • Also can be known as "Designer babies" • This is illegal, as of now, in the US (Brezzina & Kutteh, 2015)

History Timeline Chart

Examples Designer Babies Also known as the “perfect baby” A designer baby is the result of using genetic interventions before implantation of the embryo to influence the traits the resulting child will have • Eye color, hair color, skin type • Blood type, elimination of predisposition to genetically linked diseases • Personality, feelings, talents • Gender (girl or boy)

My Sister’s Keeper • Daughter Kate has Leukemia and no family member is an acceptable bone marrow donor • Parents genetically engineered a child who would be the perfect donor, her name is Anna • Anna was “made in a petri dish” to save her big sister • Based on a true story • Ethics – Anna goes through moral dilemmas with her mother – Anna is tired of being used as “spare parts” for Kate – Anna spends all of her energy filling a medical emancipation from her parent’s so she has the say in what happens to her body

Prenatal Genetic Testing • Fetal abnormalities • Cardiac disorder, neural tube defect • Specific chromosomal abnormalities • Down syndrome trisomy-21, trisomy-18 • Prenatal screenings • Noninvasive prenatal testing of cell-free fetal DNA • Ultrasound, blood tests, sequential integrated screen, serum integrated screen, quad marker screen, genetic amniocentesis (0. 25%-0. 5% chance of miscarriage), chorionic villus sampling (0. 5%-1% change of miscarriage), preimplantation genetic analysis

Pros • MANAGE RISKS OF DISEASE IN TERMS OF SCREENING • FINDING EMOTIONAL SUPPORT FOR PROACTIVE PROPHYLACTIC TREATMENT • KNOWING THE IMPLICATIONS FOR YOUR CHILDREN • GENOME EDITING HAS THERAPEUTIC PROMISE TO TREAT/CURE CERTAIN DISEASES • WILL TELL YOU IF YOUR CHILD WILL DEFINITELY DEVELOP A DISEASE • TIMELY MEDICAL BENEFITS • THE INFORMATION CAN MAKE A SIGNIFICANT DIFFERENCE IN CHOICES TO BE MADE • EMBRYO CAN BE MODIFIED TO REMOVE DEFECTIVE SEQUENCE TO PREVENT FUTURE MALADIES

Cons • UNKNOWN OUTCOMES FOR FUTURE GENERATIONS’ DNA • TESTS WILL NOT TELL YOU WHEN SYMPTOMS OF A DISEASE WILL START, OR IF IT EVER WILL • POTENTIAL FOR DISCRIMINATION • VIOLATES EMBRYO/CHILD’S FUTURE AUTONOMY • UNEXPECTED FINDINGS MAY BE REVEALED SUCH AS NONPATERNITY OF THE CHILD • UNFAIR TO THOSE WHO CANNOT AFFORD IT • EXTENSIVE COUSELING NEEDED BEFORE IMPLIED CONSENT CAN BE ACCOMPLISHED

Ethical Issues • Informed Consent • Autonomy • Human Dignity • Availability to All • Human Rights • Confidentiality and Privacy (Badzek, Henaghan, Turner, & Monsen, 2013)

Summary • The debate about having designer babies continues; whether acceptable or not. • It is important for parents to accept that the “perfect baby” can be difficult to achieve • Could be useful in avoiding certain abnormalities

• The fact that certain features are eliminated creates a controversy • Sex determination is made illegal in the US • Genetic testing a recent idea

• However, a big advancement in the medical field • Costly procedure thus not many people can afford.

References Badzek, L. , Henaghan, M. , Turner, M. , & Monsen, R. (2013). Ethical, Legal, and Social Issues in the Translation of Genomics Into Health Care. Journal Of Nursing Scholarship, 45(1), 15 -24. http: //dx. doi. org/10. 1111/jnu. 12000 Bouffard, C. , Viville, S. , & Knoppers, B. (2009). Genetic diagnosis of embryos: Clear explanation, not rhetoric, is needed. Canadian Medical Association Journal, 181(6 -7), 387 -391. http: //dx. doi. org/10. 1503/cmaj. 080658 Botkin, et al. , The American Journal of Human Genetics 97, 6– 21, 2015 Brezina, P. , & Kutteh, W. (2015). Clinical applications of preimplantation genetic testing. BMJ, 350(feb 19 3), g 7611 -g 7611. http: //dx. doi. org/10. 1136/bmj. g 7611 Gattaca. (1997). Hollywood. Jordan, p 1, 1992 My Sister's Keeper. (2009). Hollywood. Turner, Lond, & Edin pp 253 -256, 1890 Twomey, J. (2011). Ethical, Legal, Psychosocial, and Cultural Implications of Genomics for Oncology Nurses. Seminars In Oncology Nursing, 27(1), 54 -63. http: //dx. doi. org/10. 1016/j. soncn. 2010. 11. 007