The Human Genome Project (HGP), which started in 1990 and was completed in 2003, spurred a revolution in biotechnology innovation around the world. The project’s goal was the complete mapping and understanding of all human genes. Its successful completion has provided detailed information about the structure, organization and function of the human genome – the complete set of human genes. It also paved the way for a completely new approach to our healthcare – personalized medicine.
Personalized medicine is the practice of using diagnostic tools to identify specific biological markers to help determine which medical treatments and procedures offer the best course of action for specific patients. This assessment is accomplished primarily by using the individual’s genetic profile, which helps guide decisions regarding the prevention, diagnosis and treatment of disease. The goal is to provide the right treatment in the right dose to the right patient at the right time. In other words, medical treatment is being tailored to the individual characteristics of each patient.
To develop this genetic profile, an individual’s genome has to be determined or sequenced. In the ten years since the completion of the HGP, there have been tremendous advances in genome technology that helped reduce the cost of sequencing. This reduced cost enabled the pursuit of research that led to medical advances and biomedical insights benefitting patients, including the development of over 100 drugs whose labels now include pharmacogenomic information.1
Personalized medicine is believed to have the potential to change the way we think about, identify and manage health problems. According to the Personal Medicine Coalition, it is already making an impact on both clinical research and patient care. They believe that as our understanding and technologies improve, this impact will become even more significant.
But with any new developments, no matter how impactful, some very important questions and concerns must be raised. With personalized medicine and its associated genetic sequencing, there are ethical, social and legal implications. But first let us consider the technology and how personalized medicine is approached by professionals and patients.
DNA sequencing, which is the process for determining the precise order of the building blocks or nucleotides in an individual’s genome, has advanced the study of genetics and is also a method to test for genetic disorders. DNA sequencing can help find DNA variations that can affect gene activity and protein production which can lead to genetic disorders. It also identifies possible disease-causing mutations.
For example, BRCA1 and BRCA2 are human genes that produce tumor suppressor proteins. They help repair damaged DNA, but when either of these genes are mutated or altered, they may be unable to repair the damaged DNA and those cells are therefore more likely to develop additional genetic mutations that can lead to cancer. Mutations in BRCA1 and BRCA2 have been linked to an increased risk of female breast and ovarian cancer.
Today, there are more than 2,000 genetic tests for human conditions that allow patients to learn about their genetic risks for a disease. With the completion of the HGP, there are at least 350 biotechnology-based products that are currently in clinical trials.2 These biotech-based products were developed from a deeper understanding of the disease at the genomic level. Therefore we should see a completely new generation of targeted interventions, such as substantially more effective drugs with fewer side effects compared to those available today.
The original sequencing method, called Sanger sequencing (named after its developer, Frederick Sanger), was a breakthrough that helped scientists determine the human genetic code, but it was expensive and time-consuming. The HGP took 13 years to sequence the first draft of the human genome and cost U.S. taxpayers approximately $2.7 billion.3 More recently, technological breakthroughs have accelerated the process and dramatically lowered the cost of sequencing. In 2011, a company called Illumina developed a machine that could sequence DNA at a cost of $5,000. In January 2014, they announced a machine that could sequence a whole human genome for $1,000. The machine, called HiSeq X, Ten is able to partially sequence five human genomes in a single day or 16 full and complete human genomes over the course of three days.4 Because of these technological advances researchers today can find a gene suspected of causing an inherited disease in a matter of days rather than years. These genetic studies have also inspired a new initiative known as “The Cancer Genome Atlas,” which aims to identify all the genetic abnormalities in 50 major types of cancer.5
The implementation of personalized medicine consists of the following steps:
Charis Eng, M.D., Ph.D. Founding Chair of Cleveland Clinic’s Genomic Medicine Institute and Director of its clinical arm, the Center for Personalized Genetic Healthcare, and a proponent of personalized medicine perhaps said it best. “I always tell my patients that genetic knowledge is power. It is not about good news or bad news; it is about understanding the underlying cause of disease and using it to tailor a roadmap of prevention.”
Genetic testing is the foundation for personalized medicine. Information generated from a genetic test is unlike other health information. DNA is a powerful personal identifier that can provide information about the individual, as well as that person’s relatives and related groups. It also provides a window into the individual’s potential future health conditions. However, along with these powerful insights come implications for individuals, their families and society at large, on social, moral and ethical levels. Below are examples of the ethical issues arising from the ability to detect faulty genes.
Genetics technology application boundaries – As with any new technology, continued research on genetics will most likely yield more uses and applications. But where do we stop? Or could this new scientific tool be abused and used for the wrong purpose. Boundaries need to be considered.
We now have the ability to clone genes in the laboratory, which is an essential step in the treatment of genetic conditions, called gene therapy. Gene therapy is costly, so does this mean it would only be available for the wealthy? Also, should gene therapy be allowed for enhancements of basic human traits such as height, intelligence or athletic ability? If permitted, generations from now the world could be populated with perfect human beings, one more perfect than the other. For some people this could be utopia, for others it could be the exact opposite.
Genetic-cloning technology has been extended to cloning of whole animals. You likely remember that a few years ago scientists cloned a sheep called “Dolly.” Mice have also been successfully cloned. At present, it is not yet possible to clone a human, but scientists are saying that it is now technically possible to do so in the future.8 Reasons for supporting cloning humans include the egocentric wishes for immortality or providing an organ or bone-marrow donor for another family member suffering from an incurable disease. The moral, social and ethical issues associated with such genetic technologies are profound.
For now, genetic technology is limited to providing health benefits through personalized medicine, but the potential exists for inappropriate future use targeting human enhancements.
That is the question. Genetic testing has benefits, as well as limitations and risks. Whether to test is a personal and complex decision. If you decide to have your DNA mapped, there are some things to keep in mind.
DNA-based genetic testing is able to detect the predisposition to the following health conditions in an individual. Predispositions mean that the individual is more likely to be afflicted by the genetic condition, but does not necessarily mean that they will definitely be afflicted with that condition.
As a fairly new healthcare practice, personalized medicine comes with unique challenges especially for healthcare providers. Simply keeping up with all the advancements is a significant task. Growth of research in this field is so rapid that it is making it difficult for even the most dedicated clinicians to keep up. This momentum requires hiring physicians and genetic counselors at the top of their field to interpret sophisticated genetic test results and translate them into effective prevention and treatment strategies.
Healthcare providers will also play a fundamental and important role in teaching patients to be co-managers of their own health. The dynamics of the doctor-patient role will change. Educated patients will increasingly participate in medical decision-making and choice as physicians will no longer be the single sources of knowledge.
This new approach to healthcare will also change the way healthcare providers conduct business, from the services they provide to the way healthcare decisions are made and funded. Reimbursement decisions, for example, could become more complex as standard treatment protocols become less normative. Subjectivity on a case-by-case basis may be necessary requiring more collaboration among payers, providers and drug manufacturers; diagnostics, medical devices and therapeutics.
Personalized medicine could also affect technology capabilities and infrastructure. With the adoption of electronic health records (EHR), which is still in its infancy, a vast amount of patient information is already being collected such as patient histories, diagnostic reports, etc. This could multiply exponentially in the next several years along with all the genomic data that will ultimately evolve into billions of data points on every individual as analytical tools are being developed. With this emerging dependence on EHRs comes critical dependency on secure, fail-safe technology networks and a need for patient-oriented resources, such as personalized EHR apps and other innovations.
Personalized medicine is a scientific breakthrough that could revolutionize our healthcare. It’s here and is gaining momentum as a powerful form of preventive medicine that could help millions improve their quality of life. Individualized analysis of a person’s genome will enable physicians and genetic counselors to focus on what is needed to keep an individual in the best possible health. That could mean diet or lifestyle changes, targeted drugs and therapeutics, or medical surveillance. Medical science will be able to develop highly effective diagnostic tools to better understand the health needs of people. This in turn will lead to treatments that are custom tailored to the individual and their disease.
As further studies are conducted and improve our understanding at a molecular level of how diseases like cancer, diabetes, heart disease and even schizophrenia come about, we can expect a whole new generation of interventions, many of which will be drugs that are much more effective and precise than those available today.
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1 “The Case for Personalized Medicine.” Personalized Medicine Coalition, 2014, Accessed December 2014, http://www.personalizedmedicinecoalition.org/Resources/The_Case_for_Personalized_Medicine
2 NIH Factsheet, Human Genome Project. Accessed December 2014, http://report.nih.gov/NIHfactsheets/ViewFactSheet.aspx?csid=45
3 National Human Genome Research Institute, October 20, 2010. Accessed December 2014. http://www.genome.gov/11006943
4 Yirka, Bob. “Illumnia announces $1000 whole human genome sequencing machine>” Phys.org, January 16, 2014. Accessed December 2014. http://phys.org/news/2014-01-illumina-human-genome-sequencing-machine.html
5 The Cancer Genome Atlas. Accessed December 2014. http://cancergenome.nih.gov/abouttcga/overview
6 The Duke Center for Personalized and Precision Medicine. Accessed December 2014. http://dukepersonalizedmedicine.org/policy/ethicalsocial
7 Healy, Melissa. “Should life insurance firms have access to your genetic test results?” Los Angeles Times, November 11, 2014. Accessed December 2014. http://www.latimes.com/science/sciencenow/la-sci-sn-life-insurance-companies-genetic-test-results-20141111-story.html
8 “Some Ethical Issues in Human Genetics & Genomics.” Centre for Genetics Education, January 15, 2013. Page 4. Accessed December 2014. http://www.genetics.edu.au/Publications-and-Resources/Genetics-Fact-Sheets/FactSheet23
9 Jolie, Angelina. “My medical choice.” New York Times, May 14, 2013. Accessed December 2014. http://www.nytimes.com/2013/05/14/opinion/my-medical-choice.html?_r=0