Summary of a genetics-related article from a newspaper.

Summary:

The article, published by The Washington Post explores and discusses how there have been compelling breakthroughs in further understanding the human genome which has made a significant impact in the field of medicine. The article begins by highlighting the story of a 10-year-old girl, Celia Steele who has a rare, genetic disease. Celia’s genetic condition has limited her ability to walk and talk and she is dependent on tubes to receive oxygen and food.  Celia’s condition is caused by two mutations in the PDE2A gene, and it is so rare, only four known people in the world have the same condition. The article then introduces the pangenome, a more detailed version of the genetic code.

The pangenome is a layout that contains genetic information for 47 people sequenced between 2008-2015 from African, Asian, Caribbean, American, and European ancestries. The pangenome allows scientists to view parts of the sequence that are common to many people, and it also shows diversions where there are genetic differences.  The goal of the pangenome is to expand studies to ensure populations of different ancestries are equally represented, such as areas in the Middle East, Africa, and Oceania, however, it may take many years before scientists are able to fully analyze this data. The pangenome provides a lot of optimism with its potential. Previous genomic research has already transformed the impact on diagnosing and treating diseases like cystic fibrosis and cancer. In addition, for families with a loved one affected by a genetic disease, having a precise molecular diagnosis can provide closure. Current genetic information can be compared to previous genetic codes and may provide a more in-depth understanding of treatment options, if available.

The National Institutes of Health’s Undiagnosed Disease Program cross-references genetic sequences of patients and some may be diagnosed and able to obtain treatment for their genetic conditions. The article then concludes with the story of Logan, who was suffering for many years from an undiagnosed illness. Logan was adopted when he was 3. His adoptive parents noticed him displaying developmental delays with walking and talking. In addition to displaying behavioral problems, he also had signs of autism and attention-deficit/hyperactivity disorder.  After Logan’s genome was sequenced, a geneticist detected a mutation in the SLC6A8 gene. At the time of this article, the condition affected about 300 individuals worldwide. This mutation had treatment available and made groundbreaking changes in his quality of life.

I believe the information provided in the popular press article is accurate. After reading another study about the human pangenome published in Nature, I found supporting documentation about draft pangenome assemblies, and how “new pangenomic workflows could benefit individuals of different ancestries differently.” (Liao, et al., 2023).

Relevance to genetics: This article is relevant to genetics because it discusses the significance of advancements made when attempting to study and understand the human genome and genetic diversity.  Genetic sequencing is important in the medical field, specifically when diagnosing and treating rare genetic disorders. The article then describes two cases of individuals with rare diseases and the use of genetic studies in healthcare.

Article Citations:

Popular Press Article:

Johnson, Mark. A new, more diverse human genome offers hope for rare genetic diseases. The Washington Post. (2023).

Scientific Review Article:

Liao, WW., Asri, M., Ebler, J. et al. A draft human pangenome reference. Nature 617, 312–324 (2023). https://doi.org/10.1038/s41586-023-05896-x