Personal Genomics




Theimportance of health cannot be understated as far as the enhancementof the quality of life of an individual is concerned. Indeed, it haswell been acknowledged that health affects other aspects of anindividual’s life considering its impact on the individual’scapacity to create wealth in both the short-term and long-term. Thishas necessitated that governments inject immense amounts ofinvestments to the healthcare in an effort to come up with effectiveways of combating the varied ailments and enhance the health ofindividuals. Of particular note is the importance of determining thepredisposing or underlying factors that would cause diseases andailments in an individual. It is well noted that there are instanceswhere the genetic composition of an individual plays a role indetermining his or her risk of getting certain ailments. It is therecognition of this fact that has underlined the need for personalgenomics.

Personalgenomics underlines a field of genomics that primarily revolvesaround the sequencing and analysis of individuals’ genome. Theidentification of individual genotype is carried out via full orpartial genome by the use of varied Next Generation Sequencingtechniques, after which they are compared with the literature alreadypublished so as to determine the potential or likelihood for ailmentsrisks and expression of traits (Snyder et al, 2010). A large numberof ailments such as thalassemia, sickle cell anemia and even cysticfibrosis are known to be passed via genetic inheritance. Personalgenomics comes as extremely crucial in the identification of geneticpredisposition of individuals to common ailments, carrier status forgenetically inherited ailments, as well as familial traits, adversereactions and efficacy to the common medications (Mardis, 2010). Inessence, the science would allow for the prediction of the likelihoodthat a person is affected by a particular ailment and, therefore,personalizes the selection of drugs and delivery of treatment so asto offer the best possible care that would allow for effectiveness.

Ethicaland Social Implications of

Likeother medical technologies, there have been numerous ethical issuesthat have been coming up with regard to the use of personalizedgenomics or even personalized genetics. One of the emerging ethicalissues pertaining to the translation of genomics and genetics intopersonalized medicine revolves around access ad equity. Indeed, it iswell acknowledged that personal genomics come at a considerably highcost, in which case there exists a high risk that the technologywould only be available to the rich (Metzger, 2010). In fact, thishas been the case with regard to clinical dissemination pertaining topreimplantation genetic diagnosis. Further, there are concernspertaining to the impact of PGS on personal privacy, considering thatthe technology would allow individuals’ distinctive code to beexposed (Snyder et al, 2010). Even in instances where databases thatstore personal sequences are protected from the public, the DNA thatindividuals leave in varied surfaces may eventually be used in theidentification of their physical characteristics, as well as theirsusceptibility to genetic ailments (Metzger, 2010). This could haveimmense implications on the criminal justice system, which typicallyaims at enhancing the amount of DNA samples from the population.

Nevertheless,the technology comes with numerous medical benefits. First, largescale personal genomics sequencing combined with appropriate resultinterpretation would allow for a deeper comprehension of the diseasemechanisms thereby enabling more rational interventions. Thisaccomplishment has occurred in some way by the use of targeted genestudies (Mardis, 2010). PGS (personal genomics sequencing) has thecapacity to allow for enhanced identification of the patients at riskof certain ailments, for instance, those whose tumor suppressor genehas mutated, thereby allowing for more frequent monitoring fordevelopment of ailments.

Inaddition, PGS information has the capacity to enhance the process ofdrug development through the identification of geneticallypredisposed nonresponders, as well as the individuals who standhigher chances of undergoing side effects from such treatment priorto the clinical trial (Hamburg &amp Collins, 2010). The exclusion ofsuch subjects would allow trial sponsors to immensely enhance thelikelihood of success in their study and the achievement of theendpoints. Such information would eventually enhance the safety andeffectiveness of drugs as they would target patients who have ahigher likelihood for benefiting from them and are contra-indicatedfor individuals with a higher likelihood for developing undesirableevents (Mardis, 2010).

Onthe same note, PGS would assist in the diagnosis, comprehension andselection of the optimal treatment for kids and other patients thathave undefined ailments. Further, it may function as a universalgenetic test that is done once and used for the rest of anindividual’s life (Caskey, 2010). The technology can blend testsfor metabolic and rare ailments like the varied late-onset ailments,predisposition to cancer, recessive mutation carriers, drug responseand undesirable reactions, as well as human leukocyte antigen typingfor immunological compatibility among other known biomarkers (Hamburg&amp Collins, 2010).

However,the technology comes with varied risks. One of the most serious risksrevolves around the likely over-interpretation of results on thebasis of little comprehension of the contextual information. Forinstance, risks that are estimated to be 1.2 times normal do notwarrant any reporting. This may give rise to unnecessary medicalactions and result in unwarranted psychological distress (Caskey,2010). Nevertheless, this risk may be reduced using validated genomeinterpretation software that uses traditional reporting standards(Hamburg &amp Collins, 2010). This can be complemented by theintroduction of patient and physician education programs so as toallow for the comprehension of the genotypic data in broaderstatistical and biological contexts such as family history, molecularphenotypical data, and personal medical history among others (Caskey,2010).


Inmy opinion, personal genomics comes off as quite an immensebreakthrough in the world of science particularly with regard toenhancing the efficacy of medicine and medical treatment. Holding allfactors constant, it the technology can go a long way in improvingthe health of the population and their responsiveness to medications,as the medicines would be customized to their genetic composition(Caskey, 2010). However, the concerns pertaining to the privacy andthe immense cost that would actually discriminate against individualswith less financial muscle need to be addressed so as to enhancetheir appropriateness in both the short-term and long-term. In thisregard, it would be imperative that a proper policy framework guidingthe collection of such DNA or genetic information, as well as itsutilization is made so as to protect against such issues (Hamburg &ampCollins, 2010). Such policies must be crafted with the input of allstakeholders including experts in the field so as to avert thepossibility of hindering the development of the field and,consequently, its use and efficacy in promoting health in thepopulation.


CaskeyCT (2010). Using genetic diagnosis to determine individualtherapeutic utility.&nbspAnnuRev Med61:1–15

HamburgMA &amp Collins FS (2010). The path to personalized medicine.&nbspNEngl J Med363:301–304.

MardisER (2010). Cancer genomics identifies determinants of tumorbiology.GenomeBiol11:211.

MetzgerML (2010). Sequencing technologies—the next generation.&nbspNatureRev Genet11:31–46.

SnyderM, Du J &amp Gerstein M (2010). Personal genome sequencing: currentapproaches and challenges.&nbspGenesDev24:423–431.