Effects in Molecular Diagnostics and Personalized Medicine

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BRCA 1 and 2: Effects in Molecular Diagnostics and Personalized Medicine


In clinical genetic treatment and testing in patients having a given disease, there are a number of ways through which the treatment procedures can be developed. There have been a number of tremendous studies and progresses that have been done in a number of detections for mutation (Geoffrey & Gabriel, 2005). Increasingly, through the application of this genetic basis, and having understood the nature of the disease, there can be ways through which individual produce medicine whereby the genotypes have been used in defining the medicine modification and treatment strategies for the patient. From medical advancements that have been seen, it can now be possible to design medicine for specific cancer patients through employing extensive and complex genetic testing in order to understand the exact meaning in the genetic variations (Chappuis & Nethercot, 2000). The application of these medicine modification and treatment can be extended to some other genes through the application of similar knowledge hence bringing big clinical advantages. Therefore, it can be better that we consider the BRCA 1 and BRCA 2 genes and see their effects on molecular diagnostics and production of personalized medicine.

The clinical testing for a number of cancers can be done using genetic variants like the BRCA 1 and the BRCA 2. This, however, is a process, which incorporates many dangers and the reason the medical practitioners have to be keen on the procedures being carried out (Hall & King, 2000). During the process, the even distribution depicted by these genetic variants through-out entire open reading frames have been a necessitating factor for whole-gene screening in order to attain very high clinical sensitivities. Today, there are laboratories that have been conducting tests for cancer risks. In the description and classification of genetic variants being detected during anti clinical testing for a given cancer or disease will reflect the laboratory experience of the hospital since majority of the variants in BCRA1 have been discovered and experienced. There are a number of considerations that have to be put in place whenever assessing the clinical implication and significance of a given variant. These include the following. One, the type of the mutation should be understood; the location of that specific mutation in the gene, like with the splice sits and functional domains; the absence or presence of that variant in a given control population, the lack or presence of co-segregation of the variant and the disease within a number of families, co-occurrence of deleterious mutations, types and nature of amino acid changes, functional and biochemical analysis, and the amino acid conservation across the species (Colditz et al, 2003).

Personalized Medicine through the application of Genomes

It is quite true that the prediction pertaining personalized medicine has been surrounding the sequencing of human genomes. As the way the term suggests, this medicine personalization has been a breakthrough in which we can achieve prevention and treatment, which is based on the individual’s genetic characteristics and susceptibility. As a number of medical experts argue, the use of genomic derived knowledge and the necessary tools presents an ability of approaching each and every individual in terms of his genomes and biological make-up thereby improving our efficacies in treatment (Morrow & Craig, 2003). Very many tests have been successfully applied to support this promise in medical practice. The mutations in the BCRA1 and BCRA2 genes have been used in the identification of women having higher chances of developing breast or ovarian cancer (Hunter & Karen, 2000). These tests will also be effective in identifying the women who can be candidates for magnetic imaging of breast and screening or even prophylactic surgery. In addition, a number of pharmacogenetic tests are being developed as a way of improving the efficacy and safety of the drug that has been designed for a particular individual. With these procedures, the useful incorporation and application of genome testing has been considered as the appropriate intervention that would be applied in the improving health practices and medical outcomes (Brekelmans & Seynaeve, 2001).

Although this presents a better future, the claims for the new medical mentorship based on genetic testing is something that calls for scrutiny. This exhortation in preparing the genetic revolution will more often than not assume that the genetic risk will be something different from the risks posed to one’s health (Morrow & Craig, 2003). Therefore, experienced medical practitioners should be used for the exercise. Although a number of genomic researches have been done to give a number of benefits, a true appraisal has suggested that these genomes will in the coming days bring modest contributions for personalized medical practices as it has been traditionally practiced (Claus & Schildkraut, 1996).

Prediction of Genetic Risks

With the BRCA genetic mutations, the application of gene testing procedures will more often than not provide a number of risks for some common diseases affecting man. However, it should be noted that, BCRA mutations are quite rare and will account for a very small percentage of breast cancer cases. It will hence be agreed that, majority of the genetic contributors for breast cancer in women tend to have minimal effects. The need for assembling larger cohorts in genomic research will be derived from the base understanding that majority of gene variants are usually associated with some commonplace diseases which tend to have modest impacts as well as generating relative risks. It is hence necessary for more study to be done on larger populations in order to achieve the necessary power in evaluating and replicating them (Phillips et al, 1999).

In comparison with the other health risks, the population risks will tend to give a poorer performance in the prediction of patient’s outcome. More genetically related diseases will hence have limited utilities in comparison with predictive genomic tests. Here, the challenge will further be explained using researches on the genomes of age-related macular degeneration (AMD). Variants in a number of genomes have been identified as some of the risk factors with this condition. In addition, a number of protective genomic variants have also been identified.  The minor alleles’ manifestations for majority of the genes have been high, ranging between 10 to 40 percent in most of the carried out studies. It will therefore be agreed that these findings are of great importance in scientific world since they can help in the confirmation of the importance in AMD etiological mechanisms (Ellis, 2004). Therefore, genomic researches will be the sure way through which we can be able to identify the major biological pathways that are involved. Is it therefore possible to use this genetic risk in guiding us to disease prevention?

The use of genetic risk information will be effective in preventing diseases only if it will improve the use and medical interventions applied in the treatment of the disease. This means that a unique intervention will be necessary for any given individual possessing a given genotype. For instance, reduced diet in phenylalanine will be effective in prevention of mental retardation for people having phenylketonuria, while on the other hand it will be damaging in people having normal genotypes. The testing for BRCA genes might be effective in representing or providing the necessary information justifying the application of aggressive interventions in a small percentage of high-vulnerable women (Phillips et al, 1999).

BRCA 1 and 2 and their Effects on Molecular Diagnostics and Personalized Medicine

The mutations of three high-penetrating breast cancer genes have conferred great risks of breast and ovarian cancer. BCRA 1 and 2 were originally identified through analysis linkages and cloning positioning. Since then, the very first convincing report of this linkage for breast cancer was made public in 1990. Four years later, positional cloning procedures were able to reveal the causative genes which were named BRCA 1. The linkage procedure and positional cloning resulted in the mapping and in the identification of BCRA 2 in 1995. Since then, these two have been having a number of important roles in maintaining genomic stability through facilitation for repair of double stranded DNA. Therefore, BCRA 1 and 2 are large genetic compounds through which a number of large function-loss mutations have been detected. These two are high penetrating breast cancer genes and the estimations of the risks in causing cancer due to mutations in the genes have been found to vary from the case studies that have been done. On the other hand, male breast cancer has been elevated for these two genes, but mostly caused by BRCA 2. In addition, there has been an elevated possible risk for prostate cancer that has been demonstrated in BRCA 2 carriers in men of less than 65 years of age (Deborah et al, 2004).

BRCA 1 and BRCA 2 have been noted to account for the greatest cases in hereditary cancers such as ovarian and breast cancer (Boyd & Sonoda, 2000). These act as suppressor genes, which have been inherited during autosomal fashions. Several studies have shown the histologic or molecular phenotypes of any BRCA -associated tumors will be different as compared to those of nonhereditary tumors. There have been differences in steroid receptors occurring between BRCA 1 and 2 tumors with regard to the chemoprevention of ovarian and breast cancer with antiestrogenes. This means that the BCRA genes have great effects in the molecular diagnostics of a number of cancers. Around 92-100 percent of the BRCA2 genes have been associated with breast cancers, and the major ones are ER or PR positive. Breast cancers that will be associated with BRCA1 mutants tend to be frequently of higher grades, and as well, they are usually hormone receptor-negative at 33 percent. A higher percentage of cancers that are BRCA 1 mutation will have typical or atypical histologic medullary features (Morrow & Craig, 2003).

The cumulative lifetime risk of having invasive cancer of breast in individuals having BRCA 1 or BRCA 2 mutations will range from about 50 percent to 87 percent. Familial ovarian and breast cancers, however, will account a lesser percentage, and sometimes-below ten percent of all cancers of breasts. On the other hand, BRCA 1-related or BRCA 2-related diseases will constitute about two-thirds of all these cancer cases (Scheuer & Kauff, 2002). Among the women of less than 35 years of age and who have breast cancer, about ten to fifteen percent will possess BRCA1 mutations. Women who have any of the BRCA mutations and already having the disease will be at a higher risk of getting cancer until the age of 70 years. However, it has been extremely hard in determining whether the germ-line BRCA 1 or 2 statuses will have effects on the outcome of breast cancer and hence this has remained something quite controversial. As well, research has shown that the BCRA related tumors would tend to have a faster rate of growth than the other sporadic tumors. Therefore, when it comes to the genetic testing of BCRA mutations, there should be a keen study done so as to get substantial data regarding the history of the family and whether there have been developments of ovarian and breast cancers. This means that the clinical trials can be used effectively in determining the ones who are optimal subjects for the screening process, how the screening is to be done, and how counseling will be conducted.

In the production of personalized medicine for cancer patients, the application of BRCA1 and 2 genes can be very important. These will have positive effects since breast and ovarian cancer will be easily treated. It is very true that the clinical testing for these breasts, prostate and ovarian cancers can be done using genetic variants such as BRCA 1 and the BRCA 2. This, however, is a process, which incorporates many dangers and the reason the medical practitioners have to be keen on the procedures being carried out (Rebbeck & Levin, 1999). During this process, there will be an even distribution of the genetic variants in their throughout entire open reading frames which have been a necessitating factor for whole-gene screening in order to attain very high clinical sensitivities.

This will ensure that the specific variants of the mutated genes are studied in order to reflect the necessary medication and treatment for that individual patient. For instance, the mutations in the BCRA1 and BCRA2 genes will be successfully used in the identification of the women who may be having higher chances of acquiring any form of breast or ovarian cancer, and men who stand a risk of developing prostate cancer (Hall & King, 2000). These tests can be effective in identifying the men and women who can be possible candidates for magnetic imaging of breast or prostate cancer and even noting the ones who need medical screening or through prophylactic surgical means. Through the application of pharmacogenetic tests and the use of the genes, it is very possible to come up with drugs that are designed for a particular individual. Through these procedures, the use and incorporation of these genomic tests can be effective in improving health practices and medical outcomes.

We can therefore agree that the application and use of BCRA 1 and 2 can be very effective in the molecular diagnosis of those people who are at risk of developing ovarian, prostate or ovarian cancer (Deborah et al, 2004). Once this has been successfully done through gene testing, it becomes easy to get the relevant procedures through which personalized medicine can be produced. This will ensure that all the people who are at the risk of developing this form cancer, or one having the cancer is given the necessary care and treatment. Therefore, it would be necessary that extensive research be carried out to determine the interrelationship of these genomes and cancer, and how personalized medicine can be produced. This will hence call for the necessary good interactions between the medical physicians and the patient so that the appropriate care, concern and treatment can be given to the patient, and better when the use of BCRA 1 and 2 genes has been able to bring about the production of personalized treatment and medicine.

The Future for Personalized Medicine

Through the intensive use of the risk information obtained in guiding the interventions as justified by the data obtained, there will be reduced time and costs in the finding of personalized medicine for specific patients. Having been given some of the common uncertainties in the prediction of risks for common occurring diseases, the application of genome testing would play a major role in bringing about prevention of some diseases, which have relatively medical attention. This means that the improved knowledge for individual genetic profile is for a given patient will result in the provision of personalized medicine. Some of the limitations in the prediction will not interfere or reduce the outstanding importances for personalized medicine and treatment (Deborah et al, 2004). On the contrary, these limitations have been serving as a constant reminder that the practice for personalized healthcare, as physicians from days in memorial have practiced it, has been entirely based in the relationship between the medical and the patient’s relationship and not because of some piece of technology. Therefore, the focus should be aimed in the individual’s needs and concerns. Should the genome testing divert the attention of the physician from the major needs and concerns of the patient, most likely they will interfere with this practice of producing personalized medicine.


In the production of personalized medicine, the important thing should be in the acquisition of the necessary and appropriate information from the patient’s own experiences in life. This can as well be acquired slowly by slowly and eventually resulting in effective decision-making. There should also be the analysis of the family relations so that enough support can be drawn from the family support in the provision of personalized medicine for cancer. There should also be ways of addressing some of the effects of BRCA 1 and 2 genes on molecular diagnostics and personalized medicine (Boyd & Sonoda, 2000).

Personalized medicine and treatment is something that has always been a component for good medical care and practice. Genomic tests will always be applied in the provision of advanced tools, while never changing the fundamentality and goals of physicians and clinicians in the adapting of available medical techniques, technologies, and tests that will promote individualistic medicine production (Begg, 2002). This medicine will assist patients in making wise decisions and use of the genetic assessments. Therefore, whenever genetic testing has been used, the uniqueness of the care tends to extend positively even beyond the base sequence pairs of the patient. The major impediments towards this breakthrough will include financial constraints and therefore all governments should be encouraged in provision of funds so that individual patients can be given appropriate care and attention. There should also be proper patient-physician relationship for proper medical practice and provision of excellent patient care.









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