Personal genomics and personalized medicine in humans

Gene Tech

Biological Basis

Personalized genomics and personalized medicine refers to a collection of technologies and techniques designed to custom design pharmaceutical treatments according to the patient's genome sequence. The starting point for personalized medicine, which has also been called "stratified medicine" or "precision medicine" is the completion of the Human Genome Project (NHMRC, 2014). The Human Genome Project has permitted unprecedented access to genetic information and the implications the information has on human health factors.

A genome is the entire collection of genes, about 23,000 different ones, embedded in each cell of the body (The Jackson Laboratory, 2014). According to Snyder, Du & Gerstein (2010), determining a genome sequence involves "identifying single-nucleotide polymorphisms [SNPs] and structural variations [SVs], assembling new sequences, and phasing haplotypes," (p. 423). Although only two percent of the human genome is actually comprised of genes themselves, the human genome "influences how we look, our genetic predispositions for certain medical conditions, how well our bodies fight disease or metabolize food, and which therapies our bodies do and do not respond to," ("Personalized Medicine," n.d.).

Therefore, understanding how to decode the human genome can help biochemists develop targeted interventions based on an individual's unique blueprint. Those interventions can be preventative in nature as well as ameliorative. Biochemists might be able to prepare custom-designed medications that not only target the exact areas of concern, but that are also far superior than general medications because of side effects. Genes may cause to some people to experience side effects and others not (The Jackson Laboratory, 2014).

Taking into account lifestyle factors, weight, and other variables, personalized medicine may eliminate errors in diagnosis and treatment to promote healing in unprecedented ways. Personalized genomics is, however, in its infancy. It is not yet possible to sequence a person's entire genome with a hundred percent accuracy, raising important questions about the current feasibility of personalized medicine (Snyder, Du & Gernstein, 2010).

Social and Ethical Considerations

Personalized medicine is not yet widely available, and although costs have "dramatically" been decreasing, it remains out of reach for most people (Snyder, Du & Gernstein, 2010, p. 423). It is a for-profit sector that "already generates $286 billion per year in revenues and is growing by 11% annually (The Jackson Laboratory, 2014). Personal genome sequencing involves tests and procedures that are costly as well as time consuming.

However, it is predicted that in the long run, personalized medicine will actually reduce total health care costs because of the elimination of costs associated with misdiagnoses and mismatched medications. The trial and error method of doctors seeing what works best for a patient can be replaced by a far more efficient mode of intervention. The application of personalized medicine specifically for discovering the way medications interact on different people is called pharmacogenetics (NHMRC, 2014). Pharmacogenetics can reduce problems related to underdose, overdose, medication interaction problems, and medication errors. Given that some medication errors and side effects can be fatal, personalized medicine and pharmacogenetics can directly improve patient outcomes.

As the National Health and Medical Research Council (NHMRC, 2014) points out too, personalized medicine takes the guesswork out of medical diagnoses. Diagnoses are currently made by assessing a cluster of patient symptoms, which is why wrongful diagnoses are relatively common. Some diseases may go undetected for years because of a lack of manifest symptoms, with fatal outcomes for patients. Patients may not report all symptoms, and some symptom clusters may correspond with more than one disease condition. Personalized medicine procedures minimize confusion and can make diagnoses more efficient, effective, and accurate. Moreover, if personalized medicine is embraced on a broad scale, it could entail each child being sequenced at an early age. This would make it possible for doctors to detect risk factors and recommend lifestyle choices, or make early detection of disease a possibility too. Many diseases have "multigene components," and personalized medicine can highlight such issues and recommend targeted solutions ("Personalized Medicine," n.d.).

One of the potential ethical dilemmas associated with personalized medicine is privacy, confidentiality, and security. If personalized genomes become normative and standardized, then it may be possible for some types of discrimination to become unavoidable. Persons with predispositions to certain diseases might be denied access to jobs, for example. Access to medical information as sensitive as an entire genome could also make some patients uncomfortable.

However, net social benefits of personalized medicine include a potential long-term reduction in total health care costs including the costs associated with loss of life and human suffering. Health care financial cost reduction will be a potential outcome of personalized medicine as it is used increasingly to make accurate diagnoses that predict and prevent. Essentially, personalized medicine shifts the focus to "prevention and prediction of disease rather than reaction to it," ("Personalized Medicine," n.d.). Personalized medicine has the potential to radically transform the paradigm upon which medicine is currently based. Personalized genomics may be of special interest to patients with fatal or chronic illnesses, but can be used to improve accuracy in health care from the relief of headache to the curing of cancer.