Released Podcast Episodes
About The Podcast
Declining DNA sequencing costs have created a deluge of genetic data. In the past decade, these data have been used to construct genetic predictors of complex, polygenic traits—that is, traits controlled by many genes. These genetic predictors, called polygenic scores or polygenic risk scores (PGS or PRS for short), are rapidly improving and will continue to improve as further data are collected.
In this podcast, we’ll explore the many clinical applications of PGS and related genomic technologies, including:
- precision medicine: using PGS to identify groups of individuals at higher risk of certain diseases (risk stratification) in order to best allocate preventive screening or medication.
- preimplantation genetic diagnosis (PGD): using PGS in conjunction with in-vitro fertilization to identify embryos that have a predisposition for developing diseases—and not just aneuploidies (an aberrant number of chromosomes) or monogenic disorders (like Cystic fibrosis or Sickle cell disease), but predispositions for complex, common diseases (like cardiovascular, neurodegenerative, and metabolic diseases).
- gene-drives: using DNA-editing technologies like CRISPR-Cas9 to propagate certain genes throughout a population—say, a species of mosquito—in order to wipe out or control that population.
- mechanistic understanding of disease and drug-targeting: using functional annotation to begin to mechanistically understand a disease or identify potential drug targets.
Technical and Ethical Complexity
These technologies have the potential to save millions of lives and radically reduce disease incidence. But they also have the potential to make indelible changes to the collective human gene pool or cause an ecological disaster. It is an understatement to say these technologies are ethically and technically complex.
To fully grasp them, one needs to understand many topics, among them:
- quantitative and population genetics (fields that are rapidly evolving)
- evolutionary biology
- reproductive medicine and embryology
- healthcare economics
The State of the Conversation
There is a distinct lack of serious, nuanced conversations about the intersection of genomic technologies and bioethics (save for a couple of exceptions). I believe this is for a few reasons:
- Many of these fields are evolving on a month-by-month basis, so it is nearly impossible to stay up-to-date with the cutting edge, and thus it can be difficult to separate scientific fact from fiction.
- Journalists have an incentive to sensationalize and to paper over any technical complexity (not to mention, few geneticists and bioethicists work in journalism).
- Parts of the history of genetics are quite sordid (e.g., sterilization laws, the eugenic practices of the Nazis, etc.), so few practicing scientists are willing to wade into these murky bioethical waters for fear of contamination.
However, given that these technologies are on the horizon, if not already here, such conversations are sorely needed. (And demurral on these topics won’t stop these technologies from progressing and eventually being used, whether in the US or abroad.)
The purpose of the podcast is twofold:
- To help the listener develop a scientific and ethical framework for understanding cutting-edge genomic technologies.
- To expand the scope of conversations we have about genomics and bioethics, so that we, as a culture, can collectively determine the use of such technologies.
My hope is that the podcast will begin some difficult but necessary conversations, ones about issues that will define the future of our species.