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How will genetic technologies change reproductive decision-making?

An article published in the European Journal of Human Genetics has explored views on how new genetic technologies may change reproductive decision-making.

Current reproductive options

There are currently two main reproductive options available to couples with increased risk of having a child with a genetic disorder. The first is prenatal diagnosis (PND) which consists of two main methods – chorionic villus sampling or amniocentesis – to detect genetic disorders prior to birth. The second is preimplantation genetic diagnosis (PGD), which involves detecting genetic defects in embryos created through in vitro fertilisation (IVF) before pregnancy.

Reproduction decision-making for high-risk couples is a very complex and emotionally challenging situation. The decision is often influenced by several factors, including severity of the disorder, experiences with the condition, already having an affected child, religious and ethical beliefs, and perceptions on new technologies.  

New reproductive options

Rapid technological advancements in recent years, has led to the development of new reproductive genetic technologies. One of the most exciting options is non-invasive prenatal diagnosis (NIPD), which uses cell-free placental DNA to detect alterations. While, NIPD can be performed earlier than existing methods and is non-invasive, the cost and challenges in performing the procedure limit widespread use of this technology. NIPD is becoming increasingly available for detection of monogenic disorders, e.g. cystic fibrosis.

Other technologies that are not yet available include germline gene editing (GGE). GGE involves genetic engineering of the disease-causing variant in either immature gametocytes or in early stage embryos. The debate on the ethical and legal implications of GGE continues to intensify.

Developments in somatic gene editing (SGE) have shown promising results in patients with sickle cell disease and thalassemia. This method involves genetically engineering cells after birth and therefore is considered less controversial than GGE.

Perspectives on new genetic technologies

The rapid integration of these emerging technologies into clinical practice has raised concern, particularly in regards to how high-risk couples may perceive these options. A team of researchers at the University of Amsterdam conducted a series of semi-structured interviews. They interviewed 25 couples at high-risk of having an offspring affected with a genetic condition. They explored the couples’ views and considerations regarding the possible integration of new techniques – NIPD and GGE.

The team found that participants’ considerations regarding the use of new techniques were similar to considerations regarding current technologies. The main themes were in relation to safety and burden for mother and child, and also moral considerations. In general, couples favoured NIPD over PND as they felt this would be safer and would enable earlier diagnosis. Couples acknowledged the advantages of GGE, including less embryo disposal. Nonetheless, some felt that GGE was unsafe and would lead to ‘slippery slope’ scenarios. Participants preferred that the burden of decision-making was on them and therefore participants showed reluctance to SGE.

This study provides valuable insight into the issues and concerns regarding new genetic reproductive technology. Understanding high-risk couples’ perspectives on genetic editing can help inform policymaking. It also reinforces that integrating these technologies will require appropriate genetic counselling as reproductive decision-making will become even more complex.

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