12 March 2025
Louisa Ghevaert was delighted to attend the Nuffield Council on Bioethics workshop “Epigenetics in human reproduction” in central London on 11 March 2025. This event looked at the use and implications of epigenetics in human reproduction. It considered the inter-relationships between the reproductive environment, the epigenome, long-term health and assisted reproductive technologies. It went on to explore current and future scientific applications, ethical, legal and social implications. In doing so, it explored all sorts of important and complex questions and issues. How do you measure or control the environment? How effective may an intervention be and at what stage to optimise health, pregnancy and birth? How do you account for epigenetic responses (mechanisms that regulate gene expression without changing the DNA sequence) that differ between people? How reliable is epigenetic testing? How can you provide effective messaging? How do you address these issues from a policy perspective?
Image: Louisa Ghevaert, CEO & Founder Louisa Ghevaert Associates
What Do We Mean By Epigenetics and Epigenome?
Epigenetics is the study of mechanisms which regulate gene activity (known as gene expression) without altering the underlying DNA sequence. Cells use different pieces of genetic information to perform specific tasks. Epigenetic mechanisms regulate the timing, switch on/off and level of gene expression using biochemical processes (e.g. chemical marks attached to DNA, proteins and non-coding RNAs).
The distribution and types of epigenetic modifications across the genome is known as the epigenome. Importantly, every cell in the human body has a different epigenome.
Does The Reproductive Environment Effect The Epigenome And Long-Term Health?
Scientific advances increasingly (although exact mechanisms have yet to be established) suggest that the reproductive environment (pre-conception, pregnancy and early childhood) can affect later life health and disease risks. Scientific research is increasingly showing that environmental factors during important reproductive windows can affect an individual’s long-term health. Environmental factors can include maternal and paternal nutrition and diet, maternal stress and mental health issues which can impact neurodevelopment during pregnancy, along with alcohol, smoking and pollutants. Epidemiological studies have found that epigenetic reprogramming happens during the early development of an embryo, egg and sperm. Research also suggests that the effects of the reproductive environment can be inherited by future generations. As such, this raises all sorts of issues around public health and clinical guidance and for prospective parents looking to conceive a child.
Effect Of Assisted Reproductive Technologies On The Epigenome And Health
It is further hypothesised (although there are still inconsistencies and uncertainties in research studies) that assisted reproductive technologies (Including ovarian stimulation, IVF, intracytoplasmic sperm injection (ICSI), embryo culture and embryo freezing) have the potential to impact the the epigenome of eggs, sperm and embryos and long-term health of offspring and their future descendants (e.g. issues associated with low birth-weight babies). There are still, however, challenges since the oldest children conceived through assisted reproductive techniques are only in their 40s and so there has not as yet been an opportunity to undertake long-term health studies.
It is now possible to use epigenetic profiling to study the presence, levels and distributions of epigenetic marks genome-wide or in a single cell. Current research is using these epigenetic profiling techniques in the context of early embryo development. However, it still remains a challenging exercise to interpret the data produced by these sensitive techniques and the complex associations between epigenetics, genetics and the human reproductive tract.
Epigenetic screening has not as yet been deployed in a fertility clinic setting. However, it may be applied in a reproductive context in future to include:
- Preimplantation embryo epigenetic screening (e.g to screen for imprinting disorders), which would be similar to current use of PGT-M which screens for monogenic (singe gene) disorders causing disease.
- Fertility screening to test for epigenetic changes in eggs, ovarian tissue, sperm, uterine tissue and cervical secretions to help inform diagnosis and fertility treatment pathways.
- Screening for pregnancy complications to test for biochemical markers, including for pre-eclampsia.
Epigenetic editing technology has also rapidly developed over the last 5 years. Epigenetic editing makes targeted epigenetic changes at a specific place in the genome without altering the underlying DNA sequence. However, this technology is still in its infancy and it remains uncertain how efficient it will be, the extent of the risk of off-target effects and how long the edits will last. In future and as further scientific advances are made, there are potential applications for epigenetic editing in a reproductive context to include:
- To treat diseases with an epigenetic cause (e.g. imprinting disorders) by making epigenetic edits in embryos, eggs or sperm.
- To treat infertility with an epigenetic cause, although further scientific work is required to understand this.
- To enable same-sex couples to have children genetically related to them both.
- To prevent intergenerational inheritance of disease due to environmental exposures and epigenetic changes.
Direct-to-Consumer Epigenetic Testing
Several companies are now offering direct-to-consumer epigenetic kits to test your biological (as opposed to your chronological) age or environmental risk factors. These make recommendations to change your lifestyle or behaviour and improve your epigenetic health, although there is still work to be done to understand the underlying epigenetic science.
Image: Louisa Ghevaert, CEO & Founder Louisa Ghevaert Associates
The Value of Fertility & Family Law Expertise, Advisory & Consultancy
Given ongoing advances in understanding how genetics and epigenetics affect fertility, declining global fertility rates and later-life parenthood, it is more important than ever to maximise and protect individual fertility and pathways to parenthood. Specialist fertility and family law strategies, advisory and consultancy provides effective approaches to (in)fertility, helps optimise reproductive health outcomes and proactively manage family building arrangements. They identify and address a range of legal and practical issues across the family building and reproductive life cycle from pre-conception, through pregnancy, birth, family life and end-of-life, including:
- Family building options and associated legal issues due to impaired fertility including cancer diagnosis, unsuccessful conception, miscarriage, age-related fertility decline, genetic disorders, change in gender, delayed parenthood.
- Complex personal and family situations.
- Legal and practical aspects of fertility preservation.
- Navigating fertility treatment law in the UK.
- DNA and genetic testing and the law.
- Legal and practical aspects of assisted conception with an intra-family donor, known donor, anonymous/identity-release donor, co-parent or ex-partner (e.g. legal parentage, parental rights, financial responsibility and dispute mitigation).
- 3-person IVF and the law.
- Legal and wider aspects of international surrogacy or a UK surrogacy arrangement.
- Import or export of genetically matched gametes and embryos.
- Posthumous conception law and genetic legacy.
- Expert witness fertility, donor conception and surrogacy law services.
If you need to put in place effective legal and practical strategies or require advisory and consultancy to navigate fertility and pre-conception, assisted reproductive technologies, fertility treatment, global family building and effective parenting contact Louisa Ghevaert by email louisa@louisaghevaertassociates.co.uk or telephone +44 (0)20 7965 8399.
Images: Louisa Ghevaert CEO and Founder Louisa Ghevaert Associates
