Researchers have shown in a paper published in Nature Medicine that by using a combination of genomic data from both parents and embryo, they were able to infer the likely genome sequence of the resulting child.
Using genomic data obtained from parental genome sequencing, and from biopsies taken from three and five day old blastocysts, researchers hypothesised the genome sequence of the resulting child in a process they have named whole genome reconstruction.
Researchers then compared the genome of the resulting ten children to their hypothesised genome sequence and found these were 98.0-98.9 percent accurate when genomic data from five day old blastocysts had been used alongside parental genomic data.
They then looked at whether a polygenic risk score could be created using information from relevant loci from these reconstructed genomes for the embryos for different conditions.
UK BioBank data was used to predict the risk of developing certain conditions based on the presence of certain genetic variants and population frequency of the conditions they have been associated with, to create the polygenic risk scores used.
Researchers discovered variability was between sibling embryos varied for different conditions. For example, polygenic risk scores created for autoimmune conditions such as type 1 diabetes and vitiligo varied just ten percent between siblings in terms of overall absolute risk of developing a condition. A greater variability between sibling embryos was seen for some common cardiovascular diseases.
While researchers discovered a high degree of accuracy in predicting the likelihood of an embryo having a certain genotype, they did not record the phenotype of the resulting child and are unable to compare this to sibling embryos.
Combining data on the existence of disease causing variants such as BRCA1 and polygenic risk scores, was found to be significantly more accurate at predicting genotype of the resulting child, than genotyping or polygenic risk scores used alone.
Accompanying comment on the ethics surrounding the findings has been published in Nature Medicine and Clinical Genetics.
