Preimplantation Genetic Diagnosis By Annabelle Bronwyn Naomi and
Preimplantation Genetic Diagnosis By: Annabelle, Bronwyn, Naomi, and Pamela
What is PGD?
https: //www. youtube. com/watch? v=s. Cg. MJdx. Wh_w PGD International Society Meeting - Oregon Reproductive Medicine
Process of PGD
Purpose of PGD - Eugenics
- Detecting disorders
Most Common Single Gene Diseases Detected Cystic fibrosis. Tay-Sachs disease. Spinal muscular atrophy (SMA) Hemophilia. Sickle cell disease. Duchenne's muscular dystrophy. Thalassemia. Used to detect HEREDITARY diseases that can be found in only a handful of genes
Who is able to get PGD? Carriers of single gene disorders Carriers of sex-linked genetic disorders Women with recurrent pregnancy loss
PGD from a legal standpoint ● Procedure is legal in the United States
Future Implications
PGD procedures may become common and cause a lack of unique differences among individuals The increased use of PGD procedures for sex selection may cause an unbalanced ratio of males to females With continued use of PGD, hereditary and chromosomal diseases may eventually be stopped for good Societal beauty standards may change greatly due to the eugenics part of PGD
Financial Cost
Average Cost in the US It’s about $17, 000 -$25, 000 in the US. - According to the Advanced Fertility Center of Chicago - It depends on the cost of the IVF and the amount of medications needed for the IVF ovarian stimulation.
Average Cost in Oregon The cost is usually around $20, 000 for preimplantation genetic diagnosing. - According to OHSU Fertility Consultants (Portland, Oregon). ● The procedure has almost a 100% success rate (although this varies on the PGD clinic).
Variables Involved in the Cost of PGD The cost of IVF medication Embryo biopsy procedure cost Chromosomal and/or genetic analysis cost *PGD testing for a single gene disorder is an additional fee*
Average PG Testing Cost in the US ● IVF with ICSI (intracytoplasmic sperm injection) about $12, 000$13, 000 ● IVF medication about $3, 000 -$4, 000 ● Embryo biopsy $1, 000 -$2, 200 ● Aneuploidy testing (for chromosome normality) ● For single gene defects (such as cystic fibrosis), that is additional.
PG Screening with Trophectoderm Biopsy Additional fees for trophectoderm biopsy b/c it’s a step 2 process: - 1 st a fresh IVF cycle and biopsy and freezing of the embryos. - Then a frozen embryo transfer cycle is done later.
Religious Beliefs
Roman Catholic: destruction of life Jewish Orthodox: genetic repair is OK, disapproves of PGD Viewed by some Christians as playing “God” Altering evolution All human life has worth Some comparison between PGD and Hitler
Moral Code
Only for health issues Un-ethical Doing it for the wrong reasons Finding imperfections is children
In The Media
Gattaca 1997 Movie Future society driven by eugenics where children are conceived through genetic manipulation to ensure they possess the best hereditary traits of their parents.
My Sister’s Keeper 2009 Movie Focuses on the legal and medical ethics of genetically designing a baby in order to be a medical donor for a family member.
Societal Impacts
Societal impacts can lead to stigma The ability to identify genetic conditions Some say form of eugenics Confidentiality Discrimination-does PGD lead to discrimination of disabled? Should people be able to choose the sex of their baby? Does it change value?
Pros & Cons
Pros Edits made to embryos are inheritable to future offspring Lower chance of life-threatening disease High IVF success rates Wide variety of detection Reduced medical and financial burdens
Cons ● Increased use of PGD for the sole purpose of sex selection could cause an unbalanced amount of females to males ● Possibility of undetected disease ● Chance of destruction to embryo ● Very expensive procedure ● Long term effects are unknown
Case Studies
“In the present, if those of us with mostly healthy children are worried about the ethics of gene editing, then we should ask the parents of children born with haemophilia, cystic fibrosis or muscular dystrophy whether they would have used this kind of technology if it had been available to them. If science can be used to eliminate human suffering, then let’s get on with it. ”
Which scenarios allow for PGD? Consider the following: Pre-Existing/Inherited Diseases Physical traits (hair & eye color, height) Organ donor Experimental Is one more important than the other?
Case Study #1 Jo. Ann and Robert are a young couple. Both of them are short, Robert is 5’ 1” and Jo. Ann is 4’ 7”. They both know first-hand that being short has its disadvantages, especially when it comes to sports and being ridiculed by your peers at an early age. Martha and Robert are ready to start a family but do not want their children to experience what it is like to be extremely short. To achieve this, they will first do in vitro fertilization. Then, the genomes of each embryo will be screened for markers consistent with height, and only embryos likely to be tall will be implanted. The researchers found that height is controlled by at least 180 genes, and currently we do not have the technology to look at 180 genes in an embryo during preimplantation genetic diagnosis. Martha and Robert visit a fertility doctor and explain their intentions. The doctor tells them that the technology is not currently available but likely will be in the next 5 or 10 years, given the pace of advancement in DNA sequencing methods. Martha and Robert tell the doctor they are willing to wait. The doctor is uncomfortable, as PGD was developed to prevent transmission of fatal conditions, not for selection of what some would consider “vanity traits”.
Case Study #2 Michelle and Jayson Whitaker’s son Charlie had a life threatening, but non-inherited blood condition. The Whittakers applied to be allowed to screen embryos to provide a sibling who could be a donor for Charlie. The HFEA refused on the grounds that this was not a genetic condition, and therefore the embryo itself would not benefit from the screening process. The Whitakers went to the USA, where the law is not so strict, and after considerable physical and financial stress, produced Jamie, who is a match for Charlie and has since provided umbilical cord blood in a bid to cure him.
Questions, Comments, or Concerns
- Slides: 35