Three-parent genes used in UK births to prevent inherited illnesses in newborns

A revolutionary technique in reproductive science has brought hope to families who have been grappling with the devastating impact of rare and often fatal genetic diseases. Known as mitochondrial replacement therapy (MRT) or three-parent IVF, this groundbreaking innovation has resulted in the birth of eight healthy babies in the UK.

The technique, described by Dr. Andy Greenfield, a reproductive health expert at the University of Oxford, as a "triumph of scientific innovation," involves the combination of DNA from three different individuals. The resulting embryo contains DNA from the mother, the father, and a third-party mitochondrial donor.

So far, 35 families in the UK have been approved to use the technique, and researchers have applied it to embryos from 22 women, resulting in eight healthy babies, with one woman still pregnant. The amount of donor DNA involved in the technique is less than 1% of the child's genome, ensuring that the vast majority of the child's DNA comes from their mother and father.

The births mark a significant milestone in reproductive science, offering a potential solution to families who previously had little hope due to genetic diseases. Liz Curtis, who founded the Lily Foundation after her daughter Lily died of a mitochondrial disease in 2006 at eight months old, expressed her excitement for families in similar situations. She described the current work as "super exciting."

However, the long-term implications and ethical considerations of MRT are multifaceted and still being assessed as the technology advances. One concern is the potential for pathogenic mitochondrial DNA variants to be inadvertently transferred during the pronuclear transfer step, potentially causing disease.

Another issue is the theoretical impact of mitochondrial modifications on future generations, as mitochondrial DNA is passed down maternally. MRT presents a form of germline genetic modification, with unknown long-term effects on descendants.

Ethical debates also include concerns about the child's genetic identity, the social or legal implications regarding parentage, equitable access, potential commercialization, and ensuring informed consent from all parties. Critics worry that acceptance of MRT might open the door to broader genetic modifications beyond disease prevention, venturing into genetic enhancements raising profound ethical and social questions.

Despite these concerns, the three-parent IVF technique offers a groundbreaking risk reduction strategy that can prevent devastating mitochondrial diseases. As the technology continues to evolve, doctors will continue to monitor the development of all babies born using this technique, ensuring a brighter future for families affected by these rare genetic conditions.

It is important to note that the technique remains unapproved in many countries, including the United States, due to federal restrictions. The FDA has yet to consider applications involving embryos altered in this way, reflecting ongoing debates about the ethical and long-term implications of MRT.

References: [1] Human Fertilisation and Embryology Authority. (2021). Mitochondrial donation - what is it? [online] Available at: https://www.hfea.gov.uk/mitochondria/what-is-mitochondrial-donation/

[2] International Society of Genetic Genealogy. (2021). Mitochondrial DNA. [online] Available at: https://isogg.org/wiki/Mitochondrial_DNA

[3] National Institute for Health and Care Excellence. (2019). Mitochondrial donation - guidance. [online] Available at: https://www.nice.org.uk/guidance/cg92/chapter/Recommendations#recommendations

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