4 minute read

Guest Editor

Also, molecular testing for a specific disorder might result in the detection of a DNA variant (a mutation) not previously recognized as pathogenic (disease causing). These are labelled as variants of uncertain significance (VUS) and demand interpretation and discussion. Pre- and post-testing counseling by sophisticated genetics professionals such as Masters Level genetic counselors are needed. Costs for genetics/genomics services are going down, but remain difficult for some consumers to afford and insurance coverage is inconsistent. Does this suggest problems around one of the core principles of public health: assurance; and to one of the basic principles of modern bioethics: justice? Furthermore, there is not widespread access to genomics services among lower middle income countries (LMIC), and, for that matter, within parts of the United States. These situations again raise the question of Justice. Confidentiality, privacy, and strict adherence to bioethical principles are essential parts of Public Health Genomics and genetics activities.

HOW SHOULD PUBLIC SECTOR GENOMICS SERVICES BE MONITORED?

Translation of lab results to clinical availability and reliability of testing are topics that lend themselves to public health genomics discussions. The heart of public health today is the recognition that health outcomes in populations and individuals are influenced by a range of social, cultural, political, economic, environmental, and behavioral factors. Genomics is being added, perhaps near the top of the list.5

Eric B. Kmiec, Ph.D.

Director, Gene Editing Institute, ChristianaCare

COVID-19 has disrupted life as we know it. As a pandemic, it affects us here in Delaware and is still thriving throughout the world. The virus responsible for causing COVID-19 is severe acute respiratory syndrome coronavirus 2, referred to as SARSCoV-2 (defined by the World Health Organization). At the time of this writing, over 47 million cases and 771,000 deaths have been reported in the United States, with a case mortality rate of 6%.1 It remains to be seen how effective public health safety measures will be to sidestep a subsequent wave of viral infections, perhaps caused by identical or similar viruses with genetic variants. While the development, validation and distribution of effective diagnostic tests and physical separation measures have improved over the course of the last year, a rising tide of distrust within the population for the efficacy of vaccines is undeniable. Whether based in fact or fiction, it is a real problem and it is now suspected that a certain percent of the population, most specifically African Americans, will not automatically trust the vaccine. As such, it is critically important that health systems and public health agencies in Delaware and throughout the world provide effective diagnostics and therapies for the relief of this terrible infectious disease. The breakthrough technology CRISPR (Clustered Regularly Interspaced Short Palindromic Repeats) is revolutionizing every aspect of our lives by providing novel therapeutic modalities for the treatment of inherited diseases and cancer, accelerating drug discovery, and creating a brand-new class of diagnostics. The extraordinary versatility of CRISPR for gene modification and genetic detection will likely lead to new applications that have not yet been conceived. And very recently, CRISPR’s ability to precisely target RNA and DNA sequences was employed to determine if someone is infected with this coronavirus. A CRISPR-based diagnostic kit for COVID-19 was once believed to be a fantasy, yet now the SHERLOCK test and its derivatives hold a special place in the world of COVID-19 testing. It is but one example on novel genetic applications being used to help in a public health crisis. I am delighted to be a co-editor of this important issue of the Delaware Journal of Public Health, since information provided by these outstanding authors is both timely and appropriate. As we evolve clinal testing, the impact the genetic analyses have on our thinking both as a diagnostic and treatment platform is increasing rapidly. Right now, pharmaceutical and biotechnology companies are utilizing a variety of genetic tools to create cell lines that can help identify effective drugs and therapies for COVID-19 and other public health challenges. The application of CRISPR to drug discovery efforts is a platform improvement opportunity. The challenge of COVID itself is an opportunity for researchers worldwide to focus their attention on not only COVID, but on infectious diseases in general. I hope you enjoy reading the articles assembled in this issue, where our investigators and authors describe and inform about the role that genetics and genetic analysis is having on advancing and improving our capability to diagnose, and perhaps treat, any form of external agent that poses a serious public health challenge.

REFERENCES

1. The American Heritage Dictionary of the English Language. 4th Ed. (2000). Houghton Mifflin, Boston 2. What is Public Health Genetics? (2021). https://www.phgw.org/wp-2021 3. Khoury, M. (2000). Genetics and Public Health in the 21st

Century. Oxford University Press; 2000, New York 4. Burke, W., Burton, H., Hall, A. E., Karmali, M., Khoury, M.

J., Knoppers, B., . . . Zimmern, R. L., & the Ickworth Group. (2010, December). Extending the reach of public health genomics: What should be the agenda for public health in an era of genome-based and “personalized” medicine? Genet

Med, 12(12), 785–791. https://doi.org/10.1097/GIM.0b013e3182011222 5. Molster, C. M., Bowman, F. L., Bilkey, G. A., Cho, A. S., Burns,

B. L., Nowak, K. J., & Dawkins, H. J. S. (2018, September 4).

The evolution of public health genomics: Exploring its past, present and future. Frontiers in Public Health, 6, 247. https://doi.org/10.3389/fpubh.2018.00247 6. Khoury, M. J. (2018, May). Precision public health: What is it? Centers for Disease Control and Prevention. Genomics and

Precision Health. Retrieved from: https://blogs.cdc.gov/genomics/2018/05/15/precision-public-health-2/

REFERENCES

1. Centers for Disease Control and Prevention. (2021). COVID data tracker weekly review. Retrieved from: https://www.cdc.gov/coronavirus/2019-ncov/covid-data/covidview/index.html