Dr. Stephen Donoghue:

I thank the committee for allowing myself and my colleague, Dr. Jens Carlsson, the opportunity to discuss the Bill and our suggested amendment. I outlined my background and qualifications in my original submission. Dr. Carlsson is an associate professor and an expert on conservation and population genetics.

In 2018, along with Professor Dan Bradley at Trinity College Dublin and Dr. Jens Carlsson and Professor David MacHugh at University College Dublin, I submitted a report when calls were being made for public responses regarding the options and appropriate courses of actions available to the Government at the site of the former mother and baby home in Tuam, County Galway. The requests for public consultations in 2018 were partly made due to the findings of the expert technical group, ETG, in the previous year. The ETG report was sceptical about the ability to identify the remains at Tuam using short tandem repeat, STR, DNA techniques. In our report in 2018, we indicated that the ETG appeared to ignore the potential for using a technique referred to as high throughput sequencing, HTS, coupled with single nucleotide polymorphism analysis, SNP analysis, to analyse the DNA of the remains of the individuals at Tuam. HTS and SNP arrays are now overwhelmingly the tools of choice for assessing genetic variability in humans and other species. We can now routinely use many thousands to millions of SNPs for population genetics and genomic-relatedness analyses with unprecedented statistical power, but at a relatively low cost.

In speaking to members now, I shall reaffirm the executive summary of my submission to this committee. The extraction of DNA from the petrous part of the temporal bone, alongside the use of HTS, coupled with SNP analysis, represents, by far, the most efficient way to analyse degraded DNA and identify the remains at the mother and baby homes. Despite significant advances in analysing DNA and the establishment of a forensic DNA database that utilises STR profiling, Forensic Science Ireland, FSI, is unlikely to have the expertise to carry out the SNP analysis. This is not particularly unusual as STR profiling is the standard analysis used for criminal investigations across the globe. We need not, however, be restricted to this technique in identifying the remains at Tuam and other mother and baby home sites.

Despite the establishment of the agency to co-ordinate the operation of identifying the remains at a putative site, there are provisions within the Bill that anchor the FSI in the sampling, analysis and matching of the DNA. There are, however, fundamental differences between STR forensics and HTS coupled with SNP analysis. The way the DNA is processed and matched with relatives differs between the two techniques. Irish universities have academics with significant capabilities in SNP analysis, both HTS and array based. As we noted in the 2018 report, there has already been a collaboration between University College Dublin, UCD, researchers, FSI and the Garda Technical Bureau in using HTS and SNP analysis and DNA extracted from the petrous part of the temporal bone to identify the remains of Thomas Kent, one of the Irish rebellion leaders, in 2016. Indeed, the genetic identification of Thomas Kent was led by Dr. Carlsson’s team.

The Bill under consideration allows for the agency to hire consultants. The Bill should extend the operational activities of such consultants to enable them to work in partnership with the FSI. This could be to sample DNA from the petrous part of the temporal bone from the remains, to allow for the processing of the extracted DNA using SNP arrays from any remains and to match the DNA. Currently, the Bill mandates that the FSI conducts searches of DNA profiles on the DNA historic remains database in order to make a familial match. This has the potential to be problematic as STR matches may use different software to any such matches using SNPs. I have outlined the specific actions to implement these recommendations in my submission.

I would like the Oireachtas to view this as an opportunity. In my original submission, I highlighted how some key opinion leaders in forensics are recommending how the community should be shifting towards SNP analysis. The report from the Commission of Investigation on the Mother and Baby Homes and Certain Related Matters was not viewed favourably by many of the survivors of the homes or relatives. By utilising advanced DNA technologies and collaborating with academics with the relevant expertise that exists within Irish universities, as exemplified in the identification of Thomas Kent, this Government can show the world that it is serious about identifying the remains at Tuam and other mother and baby homes.

Finally, I wish to repeat the quote from Dr. Alondra Nelson, the current deputy director for science and society in the Office of Science and Technology Policy, OSTP, in the USA, the author of The Social Life of DNAand one of the foremost experts on so-called DNA reconciliation projects:

There comes a time in the life of every community when it must look humbly and seriously into its past in order to provide the best possible foundation for moving into a future based on healing and hope.

HTS with SNP analysis represents the best possible opportunity for the remains to be identified and for the State to move into a future based on healing and hope. This assertion that SNP arrays would be significantly more effective at identifying the remains than STR forensics has consequences for certain provisions in the Bill, which I have outlined in my submission.