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Four important papers published in 2020 beautifully demonstrated in what ways PRS will be used in clinic in the near future. A thread.
1. PRS is often seen as a diagnostic tool. But more than that, PRS can be a fantastic screening tool to prevent patients from undergoing unnecessary expensive lab tests.
Forgetta et al showed that by including PRS in fracture risk screening, one could reduce the proportion of individuals undergoing expensive bone marrow density scan by 41%, without any appreciable loss of sensitivity and specificity https://journals.plos.org/plosmedicine/article?id=10.1371/journal.pmed.1003152
2. Children with family history of type 1 diabetes needed frequent blood tests to monitor auto-antibody levels, as the children develop ketoacidosis, a life threatening complication, soon after auto-antibodies appear in their blood.
Antibody surveillance is expensive and is not affordable by every at-risk child. Ferrat et al 's paper hints that PRS could be used to identify children who are at high risk for T1D and prioritize them from antibody surveillance. https://www.nature.com/articles/s41591-020-0930-4
3. An another use of PRS in the clinic is to risk-assess those carrying known disease causing mutations. Given the recent rise in personal genomics companies, more often people are gonna show at clinic asking "Doctor, I have this mutation, should I be worried?"
This paper by Mars et al is the most compelling paper that I read in this theme. The authors show that, in mutation carriers, PRS modifies breast cancer risk to the point that carriers with low PRS have lesser risk even than the general population. https://www.nature.com/articles/s41467-020-19966-5
4. The last paper by Davies et al shows that PRS could be useful even in psychiatric clinic. PRS could be used to identify among 2211.2 deletion carriers who are at high risk for schizophrenia and hence might need more frequent follow up. https://www.nature.com/articles/s41591-020-1103-1
These are papers that I liked most and of course there might be more that I am not aware of. Feel free to comment if you have your own favorite list.
