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Reproductive Genetic Testing: technology, access, and decision making

Reproductive Genetic Testing: technology, access, and decision making. 2019 edition. Discussion Questions. If you could choose specific traits or qualities that you would want your child to have, what would you choose? Why?

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Reproductive Genetic Testing: technology, access, and decision making

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  1. Reproductive Genetic Testing: technology, access, and decision making 2019 edition

  2. Discussion Questions • If you could choose specific traits or qualities that you would want your child to have, what would you choose? Why? • Are there traits you would not want your child to have? What are they? Why?

  3. Reproductive genetic testingcan be used to: • Gain genetic information about an embryo or unborn fetus. • Help individuals conceive. • Identify medical conditions that might be treated in utero. • Allow individuals to select embryos based on their genetic makeup. • In the future: Alter human DNA Image: Jlhopgood, CC BY-ND 2.0

  4. Amniocentesis and chorionic villus sampling (CVS) are common prenatal tests that are carried out to reveal information about the developing fetus. Image: Bruce Blaus, CC BY-SA 4.0

  5. Non-invasive prenatal testing (NIPT) is used to understand the genetic makeup of a developing fetus. NIPT is most commonly used to look for extra or missing copies of certain chromosomes. Image: Adapted from AGeremia, CC BY-SA 3.0

  6. NIPT allows for an analysis of fetal DNA at an early stage of pregnancy. • Non-invasive prenatal testing (NIPT) involves analyzing a blood sample taken from a pregnant person to learn about traits of the fetus. • This test looks at small pieces of DNA that circulate in the pregnant person’s bloodstream. • Some of these pieces of DNA come from cells of the placenta that broke open and can reveal information about the developing fetus. Image: Personal Genetics Education Project (Patricia Hautea)

  7. In vitro fertilization (IVF) is a process used to help people with fertility issues. • Hormone injections to collect eggs • Fertilization of egg with sperm in the lab • Embryo(s) transferred to uterus • Embryos divide a number of times Schematic created by pgEd (Nadine Vincenten) using Pixabay.com images.

  8. What is preimplantation genetic diagnosis (PGD)? • The embryo is created via in vitro fertilization. • Typically, a single cell is removed from the embryo at the 8-cell stage (3 days after fertilization). • Genetic testing is performed. • The results of testing are used to decide which embryos, if any, to implant in the prospective mother’s uterus.

  9. A cell being removed from an IVF-created 8-cell embryo (3 days after fertilization) for PGD. Biazotti et al (2015), CC BY 4.0

  10. Genetic testing to select embryos for certain traits was brought into the public eye by the Nash family. Illness: Fanconi anemia (disorder of DNA repair) Cure: PGD, umbilical cord blood stem cells Photo by Mark Engebretson, University of Minnesota

  11. What % of IVF clinics provide testing for the following reasons? * * This number increased to 72.7% by 2018 Capelouto et al (2018) Data from Baruch et al (2008)

  12. The US public holds a range of opinions about the uses and limits of embryo screening via PGD Hypothetical n=1006 Data from Winkelman et al (2015)

  13. Government regulation of PGD:Opinions are divided 17% 20% Want a total ban on PGD 1% Want government regulation of safety and quality Believe government should regulate safety, quality, and ethics 24% Think government should regulate ethics only 38% Support no government regulation Data from Hudson (2006)

  14. Access to reproductive technologies Data from: https://resolve.org/what-are-my-options/insurance-coverage/infertility-coverage-state/ and https://www.reproductivefacts.org/resources/state-infertility-insurance-laws/ (accessed June 11, 2019).

  15. Discussion Questions • What are the potential opportunities that PGD can provide and what are the challenges of PGD? • Now that you have discussed PGD, have you changed your opinion about whether you would want to choose certain traits for your child? • If your family had applied PGD to you, should they tell you? Or would you prefer not to know? • Do we need rules to guide how PGD is used? If yes, what sort of rules? Whose job would it be to make and enforce such rules?

  16. Image credits Slide 3: “Newborn” by Jlhopgood (https://www.flickr.com/photos/jlhopgood/6163442113/in/photolist-anV7nS-aoDfBk-nV6kim-5uPZF2-nNXTS6-7MSPkK-TjUWP7-2efYM8W- 2efYM7y-mF2knz-2efYMaQ-RkJW-dbT2Lb-dBN2E5-dWUsnA-bDgYaa-9SzKtX-dWUsp5-aoXoJd-dbT32o-aoDheK-dWUsoY-cv3ezQ-cv3eMw-5TsFp8-2ftaj7X-79YfsJ- 2TKfSq-7AFBuK-mF3Szy-8QwD3L-4oN3Xj-4zQ5iE-nLd1PZ-4P98M-ahjewq-e2Psi-oggaq5-dBGBXk-q6rJoX-7RFrqk-8LcshT-dBN2NL-9NdSRq-dKCNUM-9FT6N-dBN2Aw- Ep2P3x-cv3eGC-6hZvwn, accessed June 10, 2019). Available under a Creative Commons Attribution-NoDerivitives 2.0 Generic license (https://creativecommons.org/licenses/by-nd/2.0/). No changes made. Slide 4: Image “Amniocentesis” by Bruce Blaus (https://en.wikipedia.org/wiki/Amniocentesis#/media/File:Amniocentesis.png, accessed June 7, 2019. Available under a Creative Commons Attribution-ShareAlike 4.0 International license (http://creativecommons.org/licenses/by-sa/4.0/). Slide 5: Adapted from “Scheme of the human karyogram” by AGeremia (https://commons.wikimedia.org/wiki/File:Human_karyogram.svg, accessed June 11, 2019). Available under a Creative Commons Attribution-Share Alike 3.0 Unported (https://creativecommons.org/licenses/by-sa/3.0/deed.en). Changed color scheme and altered ‘21’ to show 3 instead of 2 chromosomes. Slide 6: Personal Genetics Education Project (Patricia Hautea) Slide 7: Schematic assembled using the following open access illustrations on Pixabay.com . Uterus: https://pixabay.com/illustrations/uterus- ovary-ovaries-gynecology- 3777765/. Petri-dish: https://pixabay.com/illustrations/petri-dish-bacteria-science-lab-891786/. Microscope: https://pixabay.com/illustrations/microscope-lab- chemistry-science-2223268/ . Accessed June 11, 2019. Slide 9: Figure 2 fromBiazotti MC et al, Preimplantation genetic diagnosis for cysticfibrosis: a case report (2015). Published in Einstein (São Paulo), 13(1), 110-113. (https://dx.doi.org/10.1590/S1679-45082015RC2738, accessed Jan 25, 2016). Availableunder a Creative CommonsAttribution 4.0 International license (http://creativecommons.org/licenses/by/4.0/deed.en). Slide 10: Photo by Mark Engebretson, University of Minnesota

  17. References Slide 11: Data from: Baruch, S., Kaufman, D., Hudson, K.L. (2008) Genetic Testing of Embryos: Practices and Perspectives of U.S. IVF Clinics. Fertility and Sterility 89: 1053-1058. (http://dx.doi.org/10.1016/j.fertnstert.2007.05.048, accessed June 8, 2019). Data from: Capelouto, S.M., Arcer, S.R., Morris, J.R., Kawwass, J.F., Hipp, H.S. (2018) Sex selection for non-medical indications: a survey of current pre-implantation genetic screening practices among U.S. ART clinics. J Assist Reprod Genet 35:409–416. (https://doi.org/10.1007/s10815-017-1076-2, accessed May 28, 2019) Slide 12: Data from: Winkelman, W.D., Missmer, S.A., Myers, D., Ginsburg, E.S. (2015) Public perspectives on the use of preimplantation genetic diagnosis. J Assist Reprod Genet 32:665–675. (https://doi.org/10.1007/s10815-015-0456-8, accessed June 10, 2019) Slide 13: Hudson, K.L. (2006) Preimplantation Genetic Diagnosis: Public Policy and Public Attitudes. Fertility and Sterility 85: 1638-1645. (http://dx.doi.org/10.1016/j.fertnstert.2006.01.014, accessed June 10, 2019) Slide 14: Data from: https://resolve.org/what-are-my-options/insurance-coverage/infertility-coverage-state/ and https://www.reproductivefacts.org/resources/state-infertility-insurance-laws/ (accessed June 11, 2019).

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