Testing times: how should we use genomic data in assisted reproduction

The Progress Educational Trust's event 'Testing Times: How Should We Use Genomic Data in Assisted Reproduction' took place at Amnesty International in London on the 16 May 2019. The event aimed to give an insight into current uses of genomic data in assisted reproduction and its possible future uses.

The evening was chaired by Jane Fisher, director of the charity Antenatal Results and Choices, who introduced the event. She emphasised the incredible speed of development in prenatal diagnosis. When she first joined the field the only feedback parents could get on their child's genes was by karyotyping and looking at embryos through a microscope. Modern techniques of molecular testing and bioinformatics have transformed the reproductive options available for prospective parents.

Dr Jess Buxton, trustee of the PET and senior lecturer in medical genetics at Kingston University London, provided the audience with an explanation of how genes and genetic information influence our health and how it can be applied in healthcare. Dr Buxton described the rapid changes which have come about in genomics comparing the sequencing of the first human genome at a cost of US$3 billion whereas now it costs only US$1000.

She said that although there are some rare monogenic diseases which are down to mutations in a single gene, many complex diseases, including diabetes and schizophrenia, are both polygenic and multifactorial: that means multiple genetic risk factors interact with external factors make these diseases harder to predict on an individual level. As she summarised: 'genetics loads the gun, but the environment pulls the trigger'.

Dr Buxton reminded the audience that it can be easy to get caught up in technological advances of genetics, so it is critical that we do not lose sight of what is important. Genetics is about using science to improve diagnosis and choices for families suffering from genetic diseases.

The second speaker was César Díaz García, medical director of the fertility clinic IVI London. His talk focused on the use of carrier tests and how changes in the last decade are allowing us to screen for increasingly rare diseases. He explained the use of genetic compatibility tests and their use alongside unassisted and assisted reproduction, as well as gamete donation. He discussed which tests should be offered and discussed criteria including whether the illness is of early onset, physical or mental, would lead to a poor quality of life, and if there are existing treatments.

Díaz García was positive about the future of genomics in assisted reproduction with the use of genome-wide association studies to develop individualised treatment, and improve understanding of infertility, premature ovarian insufficiency, and endometriosis. Recent genomic data has been used to research implantation failure and fertility outcomes, data which could someday help infertile couples in assisted reproduction.

The next speaker was Karen Sage, programme manager of the genetic service at CARE Fertility, who discussed her work as a genetic counsellor specialising in fertility. Genetic counselling is offered to promote the health of the child and to prevent inherited diseases, with a focus on X-linked and recessive diseases.

This is done to help the parents gain information on reproductive choice including gamete donation, prenatal diagnosis and preimplantation genetic diagnosis and natural conception. Sage talked about the current work done in clinics and questioned if the current method of a 'cascading diagnosis' of the families of children affected by genetic diagnosis is the best way forward. She concluded her talk by discussing other screening methods in donor banks and Ashkenazi Jews, including the use of pan-ethnic screens for couples and donors in the USA.

The final speaker was Véronique Berman, scientific adviser and community development manager at Chana. Chana is a charity supporting couples in the Jewish community, where there is a higher incidence of carrier status for certain genetic conditions in groups of Ashkenazi descent, such as Tay Sachs.

Dr Berman explained that young adults in affected communities are encouraged to undergo carrier status screening, often before finding a partner, and are given information on the implications in counselling prior to the screening. She discussed how having the genetic information and counselling can help them establish and understand what options and choices are available to them, but noted that some opt out of testing despite the risk of passing on conditions, as it can limit opportunities in finding a partner and there is a fear of stigmatisation.

The floor was then opened for questions from the audience. First, the uptake of counselling was questioned, and Sage said that couples are not routinely offered genetic counselling but that there has been a recent increase in demand, albeit from a low baseline. The panel debated the benefits that increased genomic data would bring with improvements in diagnostic abilities, but agreed that the ethical questions of this data must be addressed to ensure there is sufficient support and counselling ready.

There was also interest in results and the clinical significance of polygenic scores. All of the panel members warned that the data from this was unreliable and far from being clinically useful. Berman was concerned that there was a risk of 'great expectations' with this technology, and that it should only be offered once robust data proved it was valuable, as we are dealing with a vulnerable group of people who are desperate to have a healthy child.

The event gave a broad overview of several ethical and clinical questions arising from the future of genomic data in assisted reproduction. The emerging data will improve reproductive choices for couples with carrier status, and I look forward to future PET events giving further in-depth talks on their development.

PET is grateful to Igenomix for supporting this event.

PET 's next public event will be 'Anonymous No More? Donor Conception and Direct-to-Consumer DNA Testing' in London on the evening of Wednesday 19 June 2019.

Find out more here and register to attend here.