Review of "Recent Developments in Genetic/Genomic Medicine" by Rachel H. Horton and Anneke M. Lucassen

This article, published in Clinical Science (2019), by Horton and Lucassen, examines the rapid advancements in genetic and genomic medicine and their significant impact on clinical practices. It highlights the challenges and opportunities presented by these developments, ranging from diagnostic applications to treatment and ethical considerations.

Key Themes

Technological Advances in Genetic Testing: The article begins by contextualizing the evolution of genetic testing. Traditional methods such as karyotyping have been supplemented by advanced techniques like exome and genome sequencing. These advancements have improved our ability to diagnose and understand a variety of conditions, particularly rare genetic disorders and cancer. The article emphasizes the increasing pace and availability of genomic testing, shifting its role in clinical settings from a largely investigative tool to a more integral part of patient care.

Diagnostic and Clinical Implications: The authors discuss how genomic technologies have revolutionized diagnosis, especially for rare diseases. They note that while these technologies have increased diagnostic capabilities, they also present challenges, particularly in interpreting the vast amount of data generated and the significance of genetic variants. The article stresses the importance of multidisciplinary collaboration in interpreting genomic results and the evolving understanding of disease gene discovery and concepts of diagnosis.

Challenges in Variant Interpretation: A significant portion of the article is dedicated to discussing the complexities of interpreting genetic variants. It highlights the low probability of any single variant causing a rare disease and the issues with variant classification among different laboratories. This has led to a shift in perspective, treating variants as 'innocent until proven guilty' but without a consensus on how to apply this principle in clinical practice.

Ethical and Social Implications: The article explores the ethical, social, and psychological implications of genomic testing. This includes the impact of uncertain or incidental findings, the changing nature of genetic information as family information, and the potential pressure on individuals and families from such information. It also touches on the rise of direct-to-consumer genetic testing and the challenges it poses, such as the reliability of information and the lack of meaningful pre-test counseling.

Therapeutic Advances and Future Prospects: Finally, the article addresses the potential for treatment of genetic disorders, noting various approaches like gene therapy, small molecule treatments, and enzyme replacement therapies. While there are promising developments, many challenges remain, including the high cost of therapies and ethical considerations, particularly concerning genome editing techniques.

Conclusions

The article concludes that while genomic technologies offer significant potential to improve health care, there is a crucial need for further study and debate to maximize the benefits and minimize potential harms. This includes addressing the challenges of interpreting genomic information, managing the ethical implications, and ensuring the financial sustainability of new treatments.

Reference

Horton, R.H., & Lucassen, A.M. (2019). Recent developments in genetic/genomic medicine. Clinical Science, 133, 697–708. https://doi.org/10.1042/CS20180436&#820