genetic disorder carriers’ views shape the conversation

In a recent article published in Natures Humanities and Social Sciences Communications Journal, researchers performed a qualitative study in the Netherlands to explore value-laden perspectives of the carriers of an autosomal dominant genetic disorder on the applications of somatic genome editing (SGE) and human genome editing (HGE).

In this way, they contributed to the global dialogue on the acceptability of HGE in line with previous public consultations, e.g., the Dutch DNA dialogue.

Study: Between desire and fear: a qualitative interview study exploring the perspectives of carriers of a genetic condition on human genome editing. Image Credit: Natali _ Mis/Shutterstock.com

Background

Many previous studies have presented the views of different stakeholders, e.g., experienced genetic professionals, people not affected by any genetic disorder, and those with a genetic disorder, on the future implementation of HGE. However, they often underestimate the quality of life of those affected by such diseases.

Also, as scientists alone cannot address moral and societal questions concerning HGE, it is vital to consider the ‘worldviews,’ i.e., the human ability to reflect on existential questions beyond religious and secular (non-religious) frameworks, of people affected by genetic disorders when using HGE.

HGE, i.e., initiating a pregnancy with a modified embryo to pass on altered genes to a potential child, is currently prohibited in many countries, including the Netherlands.

However, the Netherlands allows scientific research involving germline genome editing (GGE) using ‘surplus embryos’. These are not intentionally created for research but taken from people receiving fertility treatment who consent to its use for scientific (HGE) research once the treatment is over.

About the study

In the present study, researchers first sent a link to a documentary on the basics of CRISPR-Cas9 technology to the recruited participants, 10 Dutch carriers of an inherited autosomal dominant disorder.

Then, they performed 50-80 minutes semi-structured interviews between April and June 2019 to explore their views on HGE and SGE.  

All the recruited participants were prone to developing a serious genetic condition in the future and carried a 50% chance of passing disease genes to their (potential) offspring.

The team analyzed the gathered data using reflexive thematic analysis on interview transcripts to familiarize with the data, generate codes, find categories, review, define, and name the themes, and write the report. 

Results

The researchers found one overarching theme and three main themes. Regarding the first theme, i.e., the benefits of SGE and HGE for individuals, the lived experiences of the carriers varied widely.

Regarding the safe use of SGE, participants were positive irrespective of disease severity as long as it was medically safe and effective; likewise, most participants were positive towards HGE use but only for severe genetic conditions. 

SGE treatments involve painful medical procedures and prolonged hospitalizations. Thus, in a previous study among high-risk couples, they preferred HGE themselves than burden their child with the SGE treatment.

However, in this study, the participants had less information about SGE; thus, they had relatively positive views of SGE. It highlights the importance of providing adequate factual information about the technology to help participants take a balanced approach toward different clinical applications of genome editing.

Interestingly, two participants found HGE against their religious beliefs; they found tempering an embryo similar to tempering with God’s work. On the contrary, other participants with a religious worldview saw HGE as a gift from God to alleviate suffering, despite the high value they placed on an embryo.

Surprisingly, others viewed HGE as a tool for seeking perfection and apprehended its widespread use.

Currently, HGE use is limited to research and treatment/prevention of severe genetic disorders. The future consequences of HGE use could be strikingly different if it includes enhancement and treatment of relatively less serious conditions.

The study results also raised the issue of contextual factors, such as difficulty in demarcating whether a condition is serious because of its type and expression or an affected person’s coping ability. 

In addition, the authors pointed towards country-specific contextual factors, e.g., access to or quality of healthcare in a country and its effect on a person’s ‘worldviews.’

So, in South Africa, participants willingly agreed to use HGE for immunity against the human immunodeficiency virus (HIV) because of its enormous financial burden and threat of passing on HIV to future generations, whereas, in the Netherlands, participants had opposing views because of the availability of better HIV prevention and treatment opportunities.

Conclusions

Together, the study results pointed towards a complex relationship between how participants perceived the status of an embryo and their views on its use for HGE research. Those with a religious worldview considered the embryo as a person from conception. Yet, some favored using them for HGE research based on the moral worth of an embryo vs. the value of promoting the health of future generations.

Nonetheless, the authors recommended embracing (not resolving) the ambivalent views of the carriers of autosomal dominant genetic conditions, especially when engaging broadly with the public and stakeholders.