Benefits of the Human Genome Project

Building a World of Tomorrow

A century ago, we had very little knowledge about genetics and the role it plays in disease (National Institute of Health [NIH], 2018). The Human Genome Project was a 15-year international collaborative research program, from 1990-2005, whose goal was the complete mapping, or sequencing, and understanding of all the genes of human beings (National Human Genome Research Institute [NHGRI], 2016). The Human Genome Project’s goal was the provide researchers with powerful tools to understand the genetic factors in human disease, paving the way for new strategies for their diagnosis, treatment, and prevention (NIH, 2018). All our genes together are known as our genome (NHGRI, 2016). The human genome contains approximately three billion base pairs that make up the 23 chromosomes within our cells (NHGRI, 2010). Each chromosome contains hundreds to thousands of genes, which make up our DNA, or our genetic makeup (NHGRI, 2010).  Every part of the genome sequenced by the Human Genome Project was made public, to accelerate the pace of medical discoveries; new data was posted every 24 hours (NHGRI, 2010). With the possible advancements the Human Genome Project may bring, we are entering a new age of discovery that will transform human health (NHGRI, 2010).

The Present

An ambitious new project initiated by The Cancer Genome Atlas aims to identify all the genetic abnormalities seen in 50 major types of cancer (NIH, 2018). Cancer is a group of diseases caused by changes in DNA that alter cell behavior, causing uncontrollable growth and malignancy (National Cancer Institute [NCI], 2017a). By mapping the DNA of cancer cells and comparing the sequences to normal tissues such as blood, scientists can identify genetic differences (NCI, 2017a). The genetic abnormalities found gave knowledge that has improved our understanding of the biology of cancer and led to new methods of diagnosing and treating the disease (NCI, 2017b). The discovery of cancer-causing genetic changes in tumors has enabled the development of therapies that target these changes as well as diagnostic tests that identify patients who may benefit from these therapies (NCI, 2017b). As a result, drugs have been developed to fight the disease in several ways, including inhibiting enzymes that trigger the abnormal growth and survival of cancer cells, blocking gene expression of cancer cells, and halting molecular signaling pathways that are in overdrive in cancer cells (NCI, 2017a). These targeted therapies specifically combat characteristics of cancer cells that are different from normal cells and makes them less likely to be toxic to patients, compared to chemotherapy and radiation which can kill healthy cells (NCI, 2017a). Such therapies would likely produce better outcomes for cancer patients, provide an increased quality of life and improve self-esteem and overall mood.

The Future

Having the complete sequence of the human genome is similar to having all the pages of a manual or an incredibly detailed blueprint needed to make the human body (NIH, 2018). The challenge to researchers and scientist now is determining how to interpret the findings and understand how the many complex parts work together in human health and disease (NHGRI, 2010). These insights will give healthcare providers new technology to better treat, prevent, and cure diseases (NHGRI, 2016). Through our understanding at the molecular level of how things like diabetes, heart disease, or schizophrenia come about, we should see a new generation of drugs and interventions (NHGRI, 2010). The increasing ability to connect DNA variations with medical and non-medical conditions, such as heart disease, cancer, intelligence and personality traits, will challenge society, making the role of ethical legal and social implications research more important than ever (NIH, 2018).

Viral diseases have an enormous impact on human health worldwide, and genomic technologies are providing researchers the capability to study at the genetic level the viruses that cause disease and their interactions with infected hosts (Broad Institute, n.d.). Viral genomes differ from other organism genomes in complexity, due to their higher density of gene coding and smaller size (Holmes, 2009). The Centers for Disease Control and Prevention (CDC), aims to create a genome program to be used to support public health efforts to control infectious disease (Centers for Disease Control and Prevention [CDC], 2017). Researchers are defining the components in pathogens and their hosts; knowledge will bolster efforts to develop effective vaccines, rapid diagnostics, and new kinds of therapeutics (Broad Institute, n.d.). Advancements could one day lead to the eradication of some diseases.

The Ethics

It was essential that research be conducted to investigate the issues related to the use of genomic information to maximize the potential for beneficial effects while minimizing the risk of detrimental effects (NHGRI, 2010). From the start, the Human Genome Project supported an Ethical, Legal, and Social Implications (ELSI) research program to address the numerous complex issues that would arise from genetic mapping (NIH, 2018). Five percent of the annual budget of the National Human Genome Research Institute was committed to ELSI to guide policymakers (NHGRI, 2010). The ELSI program is the most extensive dedicated bioethics research program at the National Institute of Health (NIH), awarding over $335 million in research support (NHGRI, 2015b). This research falls into four categories: psychosocial and ethical issues in genomics research, psychosocial and ethical issues in genomic medicine, legal and public policy issues, and broad societal problems (NHGRI, 2015b).

Issues raised by ELSI included: possible discrimination by employers or health insurers, social, cultural, and religious perspectives on genetics and health, cloning, stem cell research, eugenics, and economic considerations (NHGRI, 2017). The Genetic Information Nondiscrimination Act (GINA) of 2008 is a federal law that protects Americans from being mistreated because of the differences in their DNA that may affect their health (NHGRI, 2015a). The law eased concerns that some people may not get genetic tests due to fear of discrimination by employers and health insurers (NHGRI, 2015a). However, what seems to be the most substantial argument is the effect genetic enhancement can have on human evolution. Philosophical and religious objections have been raised, based on the belief that to intervene is “playing God” (NHGRI, 2005). Fear of the unknown can be a significant factor in one’s disapproval. It is not the fact that we can cure ailments, it is the possibility of what some believe we could do with genetic enhancement, even if there is no evidence such enhancement is possible. The distinction between cure and enhancement might be evident to some; others see a gray area where interventions that began to cure could slide quickly toward interventions that enhance (NHGRI, 2005). These are the types of ethical questions and legal debates that ELSI dedicated to research.

The Advancements

Having one’s complete genome sequence will make it easier to diagnose, manage, and treat many diseases (NIH, 2018). Individualized analysis based on each person’s genome will lead to a potent form of preventative medicine (NHGRI, 2010). Pharmacogenomics is a field that looks at how genetic variation affects an individual’s response to a drug (NIH, 2018). Health-care professionals will be able to work with individuals to focus efforts on the things that are most likely to maintain health for an individual (NHGRI, 2010). Researchers can already identify whether a breast cancer patient will respond to the drug Herceptin, whether an AIDS patient should take the drug Abacavir, or what the correct dose of the blood-thinner Warfarin should be (NIH, 2018). The genome-based research will eventually lead to the development of highly effective diagnostic tools, to better understand the needs of people based on their genetic make-ups, and to design new and highly effective treatments for disease (NHGRI, 2010). Based on a deeper understanding of pathology at the genomic level, health care professionals will see a whole new generation of targeted interventions, many of which will be drugs that are much more effective and cause fewer side effects than those available today (NIH, 2018).

The Nursing

The Human Genome Project affected nurses in many ways. Nurses will need to understand and be able to educate patients regarding their genetic material, such as which diseases may have a genetic component. Questions asked upon admission to the hospital or clinic have a genetic component; these questions help to gather data to complete a family history. The genetic data collected make a genogram, or a graph showing what diseases are found within the previous three generations. The family history can give nurses clues about genetic inheritance and relate the information to other assessment data collected by the nurse. Assessing the data collected may reveal a pattern that can influence the patient’s care plan. Such information is vital to produce a positive patient outcome.

It is difficult to imagine a healthcare system where every patient stay is without complications, but using genome sequencing will provide many advancements for nurses and healthcare professionals. Healthcare professionals will no longer have to work around medications to achieve the best outcome. With pharmacogenomics, healthcare professionals will know how patients will react to drugs and which treatment options will provide the best result. The length of hospital stays could decrease due to fewer complications. Clinics may see a decrease in appointments because of the reduced need to monitor drug levels because through genome sequencing, health care providers will know more certain therapeutic levels and which drug will react best with the individual. Healthcare will become individualized to serve the needs of each patient. In the future, with new treatments, science will not just treat symptoms, but be able to address the causes of the symptoms. Results will lead to an overall healthier society. Gene sequencing will positively progress the future of healthcare.

Conclusion

The Human Genome Project has the potential to reshape the entire healthcare system. By being able to understand how our bodies work, at the molecular level, will provide a medical advantage to better diagnose, intervene, and treat various diseases. With the help of genome sequencing, providers can finally make health care fit the needs of their patients by individualizing care. Much research is still needed to continue upon the progress already made, but results thus far are overwhelmingly promising. As the research of the human genome progresses, and such positive results are shown, it will usher in a golden age of genetic biology and fundamentally shape humanity and the healthcare system.

References

• Broad Institute. (n.d.). Viral Genomics. Retrieved from https://www.broadinstitute.org/viral-genomics
• Centers for Disease Control and Prevention. (2017). Pathogen Genomics. Retrieved from https://www.cdc.gov/genomics/pathogen/index.htm
• Holmes, E. C. (2009). RNA virus genomics: a world of possibilities. The Journal of Clinical Investigation, 119(9), 2488-2495. Retrieved from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3185590/
• National Cancer Institute. (2017a). Cancer Genomics Overview. Retrieved from  https://www.cancer.gov/about-nci/organization/ccg/cancer-genomics-overview
• National Cancer Institute. (2017b). Cancer Genomics Research. Retrieved from https://www.cancer.gov/research/areas/genomics
• National Human Genome Research Institute. (2005). Genetic Enhancement. Retrieved from  https://www.genome.gov/10004767/genetic-enhancement/
• National Human Genome Research Institute. (2010). The Human Genome Project Completion: Frequently Asked Questions. Retrieved from https://www.genome.gov/11006943/human-genome-project-completion-frequently-asked-questions/
• National Human Genome Research Institute. (2015a). Genetic Information Nondiscrimination Act of 2008. Retrieved from https://www.genome.gov/10002328/genetic-discrimination-fact-sheet/
• National Human Genome Research Institute. (2015b). The Ethical, Legal and Social Implications Research Program. Retrieved from https://www.genome.gov/10002329/elsi-research-program-fact-sheet/
• National Human Genome Research Institute. (2016). An Overview of the Human Genome Project. Retrieved from https://www.genome.gov/12011238/an-overview-of-the-human-genome-project/
• National Human Genome Research Institute. (2017). Ethical, Legal and Social Issues in Genomic Medicine. Retrieved from https://www.genome.gov/10001740/ethical-legal-and-social-issues-in-genomic-medicine/
• National Institute of Health. (2018). Human Genome Project. Retrieved from https://report.nih.gov/nihfactsheets/ViewFactSheet.aspx?csid=45