Yoshie Murakami: Genetics/Genomic Information and Nursing

2025/03/19

With the Human Genome Project, which analyzed 90% of DNA in 2000, progress has been made in identifying the causative genes for hereditary tumors. However, because the human body is formed through differentiation from a single fertilized egg, germline genetic information exists in every cell, and it is currently impossible to treat causative genes throughout the entire body. Therefore, for hereditary tumors with a high risk of developing cancer in specific organs, guidelines recommend lifelong medical visits, continuous screening for early detection, and the option of organ removal before cancer develops.

When I was a graduate student, I met a patient with familial adenomatous polyposis, and for nearly 30 years since then, I have been involved in nursing practice and research for individuals with hereditary tumors and their families. I still vividly remember how my heart was moved to take action after meeting people who died young from cancer despite knowing they were predisposed but not utilizing that information, or those who died without ever knowing they carried a high-risk gene.

Removing organs due to hereditary breast, ovarian, or colorectal cancer has a significant impact on daily life and identity, and it is not an easy decision to make. However, meeting those who lose their lives at a young age leaves me, as a healthcare professional, with a sense of deep regret. We only have one life. I always hope that people will use the information available to make their own choices about their lives.

Nurses cannot perform surgery or prescribe medication like doctors can, but they can provide accurate information about increasing risks, think through options together, and offer support to help patients live their lives to the fullest. It is easy to imagine how many lives could be saved if nursing professionals—including nurses, public health nurses, and midwives—possessed the latest information on genetics and genomics.

We have entered an era where the identification of genes for various diseases, not just cancer, is progressing and significantly transforming treatment strategies. In the field of cardiovascular disease, the second leading cause of death in Japan, various genes are also being identified. In particular, a "heart failure pandemic" with a significant increase in elderly patients is expected. To take measures before this occurs, we are in an era that requires the training of nursing professionals who can better utilize genetic and genomic information to support the maintenance of health.