Genomic technologies that have taken shape in the last two decades have virtually altered the human understanding of intricate molecular processes that supports the delicate web of life on the planet. A wide range of sophisticated genetic assays and state-of-the-art sequencing technologies have allowed researchers to identify genetic events such as mutations that are closely linked to malignancies. This has given healthcare providers unprecedented access to information that could a long way in achieving amazing results with regards to treatment and intervention outcomes (ASH Clinical News, 2015). The concept of personalized medicine based on individual DNA profiling is already helping doctors and physicians carry out highly accurate assessment of risk and arrive upon excellent cancer treatment and research outcomes (Orchard, 2016). Genomic profiling through high throughput DNA sequencing is allowing doctors and researchers identify rare genetic conditions easily and considering the fact that 1 in 10 Americans is affected by at least 1 of the 7000 known rare genetic conditions, this is a significant leap in medical technology in the entire history of mankind (Orchard, 2016).
The benefits and prospects of genetic profiling:
Doctors have traditionally relied on techniques such as amniocentesis to ascertain if the foetus that is developing inside the womb is carrying any genetic defects. Though reliable, amniocentesis is invasive in nature as it involves transabdominal insertion of a needle into the abdomen of the pregnant woman. With modern genomic profiling technologies doctors today can obtain traces of foetal DNA sample from a tiny blood sample of the mother and detect the presence of any foetal genetic problems. This is not just non-invasive and less traumatic than amniocentesis but also highly accurate, fast and easy to perform (Orchard, 2016). Similarly, researchers have established that genetic screening for the presence of epidermal growth factor receptor overexpression in lung cancer tumours lead to better treatment outcome. This is because such tumours exhibiting overexpression of epidermal growth factor receptor respond far better to certain drugs and doctors can make the most informed choice with regards to their prescription (Orchard, 2016). Genetic screening for entities such as phenylketonuria in babies is already a well-established practice to prevent manifestation of mental disabilities in their later lives by sticking to a specific low-protein diet. In essence, personalized genetic profiling can be an excellent tool to formulate highly effective preventive interventions that will not just help in maintaining good health but will also lead to substantial savings in healthcare costs. A very interesting case of genetic profiling that lead to the identification of a rare genetic mutation and successful treatment of a serious condition is that of Nicholas Volker. The toddler had a highly inflamed intestine and already undergone more than hundred surgeries including a colectomy. The prognosis was still very bleak and as the last resort his doctors decided to sequence his entire DNA. Though this was a shot in the dark it was like a blessing for the child because doctors could identify a highly unexpected mutation in his genome that was responsible for his inflamed intestine and could even cure the condition by transplanting umbilical cord cells to his bone marrow. This was the first case where DNA profiling led to the detection of a rare mutation and successful treatment of the condition. No doubt, the medical fraternity hails Nicholas Volker as the first patient whose life could be saved by DNA Sequencing (Herper, 2011). Another famous example of genomic screening who underwent preventive double mastectomy to reduce the risk of breast cancer is Angelina Jolie. Doctors discovered that she carries a mutation of the BRCA1 gene that can predispose an individual to breast cancer. She even underwent preventive surgery to remove her ovaries and fallopian tubes because her mother and grandmother had ovarian cancer and genetic testing indicated a hereditary angle (WEINTRAUB, 2015);(Desaulniers, 2015).
Cancer research is very well poised to benefit tremendously from genetic profiling. Every malignancy or tumour has very unique molecular characteristics and the information is extremely valuable for development of effective drugs and interventions. It is possible that two individuals suffering from lung cancer has very different tumor characteristics that will influence their response to drugs. Thus standard cancer interventions such as chemotherapy that would be same for both the individuals may not be effective in treating their conditions. All the prominent drug development corporations have fully realized this aspect and for this reason companies such as Roche are investing heavily on cancer interventions that are highly specific or targeted based on an individual's genetic makeup. Genetic profiling of different cancer tumours such as lung cancer, breast cancer and stomach cancer have indicated the diversity in their response to treatment is mainly due to the different types of mutations that they carry. DNA analysis of the tumours will help the researchers formulate the most effective intervention irrespective of their tissue of origin and this can also go a long way in reducing recurrences.
Pharmacogenomics is another sector that is utilizing genetic screening to develop drugs that are specifically targeted to an individual based on his or her genetic profiling. Variations in the genetic architecture makes an individual either responsive or non-responsive to different drugs and genetic profiling of patients will help care providers prescribe drugs that will work best for them. This will not just improve treatment outcomes but will also reduce healthcare costs substantially by reducing repeat visits.
Though it appears highly promising, genetic profiling of individuals for targeted treatment is still at a very early stage and there is still lot to learn on how a particular genetic abnormality can or will predispose an individual to a particular medical condition. Jaiswal et al. (2014) carried out a study where they studied 160 gene mutations related to myeloid and lymphoid cancers and observed that the mutations are very difficult to detect in people who are less than 40 years old. Furthermore the mutations associated with myeloid cancer can also be present in healthy individuals. Similarly, Genovese et al. (2014) observed that gene mutations that can lead to clonal hematopoiesis in blood cancer patients become more detectable with age. Other concerns expressed by many involve ethical and legal ramifications. There could be situations where knowledge of an individual's genetic profile that make him or her susceptible to a particular disease may lead to loss of employment and discrimination in receiving adequate healthcare coverage. As individual genetic information from genetic profiling becomes more available issues concerning privacy and consent will also become very important. There will have to be well-defined framework that would govern how such information or data can be accessed and utilized by drug companies for targeted drug development research. Cost is still a challenge and much more development is still necessary in the technology that would allow quick and affordable DNA profiling in clinical setting. Genomic technologies are relatively new and the sector is still very niche. It is therefore a real challenge to integrate the same with the practices of the current medical practitioners. In essence, genomic training of the current medical professionals would be critical because if they are not able to analyze or interpret the genomic data to arrive upon the more effective treatment interventions the care receivers will not receive the anticipated benefits. Government agencies and policy makers will also have to properly understand the dynamics of genomic technology so that they can formulate acts and policies addressing issues surrounding privacy and security.
Decoding Genomic Profiling: The Hype and the Hope of Precision Medicine | ASH Clinical News. (2015). Ashclinicalnews.org. http://ashclinicalnews.org/decoding-genomic-profiling-the-hype-and-the-hope-of-precision-medicine/
Desaulniers, V. (2015). What Angelina Jolie Didn't Know About the BRCA Gene. The Truth About Cancer. https://thetruthaboutcancer.com/angelina-jolie-brca-gene/
Genovese, G., Kähler, A., Handsaker, R., Lindberg, J., Rose, S., & Bakhoum, S. et al. (2014). Clonal Hematopoiesis and Blood-Cancer Risk Inferred from Blood DNA Sequence. New England Journal Of Medicine, 371(26), 2477-2487. http://dx.doi.org/10.1056/nejmoa1409405
Herper, M. (2011). Forbes Welcome. Forbes.com. http://www.forbes.com/sites/matthewherper/2011/01/05/the-first-child-saved-by-dna-sequencing/
Jaiswal, S., Fontanillas, P., Flannick, J., Manning, A., Grauman, P., & Mar, B. et al. (2014). Age-Related Clonal Hematopoiesis Associated with Adverse Outcomes. New England Journal Of Medicine, 371(26),2488-2498. http://dx.doi.org/10.1056/nejmoa1408617
Orchard, C. (2016). Genomic Medicine in the Real World: Hope and Hype. Ecpe.sph.harvard.edu. https://ecpe.sph.harvard.edu/newsstory.cfm?story=Real-World-Genomics