This week (13th-16th April 2021), the American College of Medical Genetics and Genomics (ACMG) hosted its Annual Clinical Genetics Meeting. The meeting had a range of talks and discussions presenting new scientific research and exploring how genetic discoveries can be translated into patient care.
Over a year into the pandemic, virtual meetings are still enabling us to come together to share findings and lessons learned. While ACMG’s virtual meeting took a different format to what we are used to, they ensured that the same high-quality content was available. Here, we share just a few snippets of content from the meeting.
Researchers published the first publication on the use of CRISPR-Cas9 for somatic genome editing in 2012. Since then, experts have hailed it as a revolutionary breakthrough with the power to transform medical therapy for genetic disorders. Researchers have already successfully applied CRISPR-Cas9 mediated gene editing on somatic cells to a number of rare genetic diseases. While challenges remain in regards to off-target effects and mosaicism, this approach continues to show promise for the treatment of many conditions. However, the idea of gene editing within germline cells has caused a lot of debate, with many considering this approach unethical.
In 2018, He Jianuki and colleagues used CRISPR-Cas9 to create embryos resistant to HIV. This event has led to additional voices weighing in on the host of ethical and societal issues associated with applying editing tools to the germline. A recent international commission announced that any initial uses of heritable human genome editing should “proceed incrementally and cautiously and provide the most favourable balance of potential benefits and harms.”
Adopting heritable human genome editing
At the 2021 ACMG meeting, a multidisciplinary panel of experts explored the continuum of scientific, ethical, legal and consumer perspectives on the clinical adoption of heritable human genome editing. Jeffrey Kahn (Professor, Johns Hopkins Berman Institute of Bioethics) noted that the main concern is safety – stating that “it is not ethical to go forward if it is not safe”. He also explored the societal and ethical implications, such as the idea of ‘playing God’ and fears of eugenics.
The session also contained a patient perspective from Seth Rotberg (Co-Founder, Our Odyssey) who at the age of 20 found out he was a carrier for Huntington’s Disease. Rotberg set up non-profit company, Our Odyssey, that provides emotional support to young adults impacted by rare or chronic conditions. He questioned who will have access to these tools, emphasising the importance of equity of access. He believed that these editing tools would provide a great opportunity for those with conditions without treatments or cures. Yet, emphasised that researchers must obtain enough data and evidence before they implement these tools, particularly regarding the long-term effects. He also compared this to the roll-out of the COVID-19 vaccines and the importance of having a lot of data to build trust.
Excellence through diversity
Understanding human genetic variation is critical to the field of medical genomics. While there is a universal understanding in the field of the importance of genetic diversity, there is still a significant gap with respect to diversity across the field. This ranges from textbooks and journals that lack depictions of patients from diverse backgrounds, to a workforce that does not reflect the diversity of its population. Another issue is the lack of diversity within genomic databases and research projects that are biased toward European populations.
During one of the sessions, several experts explored diversity and disparities within patient care and the ongoing efforts to increase diversity within the workforce. Fuki Hisama (Professor of Medicine, University of Washington) began the session discussing findings that demonstrate how minority patients receive poorer quality healthcare, which results in worse outcomes in these patients. Hisama noted that while the sources of existing disparities are many and complex, we must still address them. She expressed that ongoing advances in healthcare can widen disparities unless we consciously reduce them. In addition, she emphasised that it is our duty as genetic professionals to lead these efforts to ensure that the benefits of genomics will be available to all.
Diversifying the workforce
In another talk during this session, Fabiola Quintero-Rivera (Professor, UCLA David Geffen School of Medicine) shined a light on strategies to promote diversity and inclusion within the workplace. Quintero-Rivera began her discussion showing data that highlighted the underrepresentation of minorities within the US Medical School Faculty (relative to their proportion in the general population). She noted that achieving equity in the workplace will require actively correcting for the disparity. She also emphasised that the best way to address this issue is through education and open dialogue with peers from non-underrepresented groups. Another way to promote diversity would be to encourage underrepresented students or colleagues to participate and take leadership roles as well as give talks at prominent events. Quintero-Rivera finished her talk by emphasising that the time for diversity and equity within medical genetics is now – we must educate ourselves and ensure we are part of the conversation.
“Of all the forms of inequality, injustice in health care is the most shocking and inhumane” – Martin Luther King Jr
Image credit: By starline – freepik