Spero Ventures
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Spero Ventures

For Our Kids, We Will Always Want To Know

Re: The Last Children of Down Syndrome

Photo by JESHOOTS.COM on Unsplash
  • NIPS becomes an entirely mainstream method of evaluating risk, non-invasively. There is a mounting body of evidence (and recommendation by ACOG this summer) that NIPS should be an insurance-reimbursed test for all women, both high-risk and low-risk, because of its superior performance. It’s only a matter of time before every pregnant woman does NIPS.
  • Carrier screening becomes a couple’s first encounter with their own genetics. Carrier screening has already expanded from a few dozen genes to hundreds. If this continues, it may soon represent the first significant encounter with genetic screening by men and women alike. There’s no technical reason why carrier screening wouldn’t eventually include autosomal dominant traits such as BRCA mutations, along with recessive ones for which the parents could be carriers. Again, it’s only a matter of time before this increasingly common screening step reveals important information about the health of the parents, in addition to that of their potential offspring.
  • We continue to improve our knowledge of genetic variants. There are vast swathes of the genome that we are utterly in the dark about. We need to continue to improve our knowledge of the impact of certain variants on health and disease. This means more sequencing of diverse, healthy and sick adult populations, more GWAS studies, more data sharing.
  • The imperative to counsel patients with empathy and efficiency grows. I should probably write a whole piece about genetic counselling, an area of particular passion. But the short form is: it can be an enormously important consultation that helps patients and families understand their results, make sense of complex probabilities, and make hard decisions based on life stage and risk tolerance. We have too few counsellors to meet patient demand. We need better, more automated systems that enable genetic counsellors to focus on patients and families facing the most complex questions.
  • Systems develop to empower kids and families to monitor and enhance their genetic findings over the course of their lives. If they were sequenced, this means continuing to monitor the literature around VUS and alert them of reclassifications. If they were genotyped, this could mean enhancing their genetic coverage as lower-cost sequencing becomes available and relevant given their health and life stage.
  • Create community around the journey. Becoming pregnant goes from something that’s unplanned or semi-secretive to a journey in itself. Families, and specifically women, rely on one another for support during other phases of their pregnancy and parenthood journeys, and this will be no different. I’ve long hypothesized that genetics could be an ultimate source of network effects. Our genes connect us inextricably to one another, and they also directly affect our experience of life. The connection and engagement that takes place among rare disease patients and their families — a connection based on shared genetics — foreshadows how a broader set of patients will interact. Adding genetic understanding to the journey of becoming parents pulls forward a complex set of questions and decisions. As “knowing” becomes increasingly mainstream, the families who have traveled a similar path will play an essential role in supporting those that come after them.



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Sara Eshelman

Principal at Spero Ventures — venture capital for the things that make life worth living.