Age of Genetic Testing for Individuals at Risk for Breast Cancer

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Important information linking familial genes to diseases like breast cancer has been discovered through genetic studies. These diseases are caused by harmful gene mutations that are passed down from parents to their children, necessitating genetic testing among at-risk people to avoid or mitigate the pathogenesis of these genetic diseases. Various genes have been isolated and involved in the pathogenesis of breast cancer. The BRCA1 and two genes, along with TP53, PTEN, and PALB2, are the principal genes connecting an individual to breast cancer, according to the National Health Service (NHS “Breast Cancer Genes”) and the American Cancer Society (“Breast Cancer”). These genes are among them. Bayraktar and Arun (224) contend that BRCA mutations account for 47-66% and 40-57% risk for breast cancer and ovarian cancer respectively, for women aged 70 years. Given that the genes are hereditary, a positive family history for BRCA mutations implies a high risk for genetic predisposal to the disease; hence, the need for genetic testing. The tests have varied psychological impacts on the person undergoing the tests, and for that matter, psychological assistance is needed in the genetic test continuum. Normally, persons aged 18 years and over can understand the risks involved in the tests, and also have a high comprehension of the procedures and associated medical discourse, therefore, can give the needed consent for genetic testing. Considering the strong association between BRCA mutations and genetic susceptibility to breast and ovarian cancers, the recommended age for genetic testing should be at least 18 years.
Breast Cancer and Genetic Mutations
Research has established that BRCA 1 and 2 genes are involved in the secretion of tumor suppressor proteins. These proteins protect the body from potential carcinogenic tumorous growths that arise from DNA damages (Bayraktar and Arun 225; Collinson 35). Because of their tendencies to repair broken DNA material, these genes are responsible for the stabilization of the cells genetic material. Considering that all humans have these genes, any form of mutation confers a dysfunction or impairments that destabilize the DNA and cellular integrity, thereby compromising its natural tumor supressing role.
Various researchers have established a connection between BRCA mutations and the subsequent pathogenesis of cancer, which range from female gynaecological cancers (breast and ovarian types), and others like prostate and colon cancers, among others. Bayraktar and Arun (22-226) have established a correlation between BRCA mutations and the risks of breast and ovarian cancers by alluding to the prevalence statistics that demonstrate a probability of 47-66% and 40-57% for breast and ovarian cancers respectively for women aged 70 years. These probabilities significantly underpin a correlation between BRCA mutations and cancer pathogenesis. Padamsee, Wills, Yee and Paskett (1-2) report that BRCA1, BRCA2, and other mutations account for between 20-80% risk for breast and ovarian cancers, and related secondary malignancies, as well as other types of cancers. The cause-and-effect relationships between BRCA mutations, and breast and ovarian cancer developments have guided various healthcare agencies to adopt genetic testing for individuals at risk of breast cancer. The NHS (“Breast Cancer”) estimates that individuals with BRCA mutations have a probability of 40-85% risk of breast cancer; hence, their recommendations for genetic testing for those with a positive family history, especially if the persons involved are first degree relatives. Similarly, the American Cancer Society (“Breast Cancer”) recommends genetic testing for those with a positive family history, BRCA1 and BRCA2 mutations, as well as other forms of genetic alterations. This information implies that persons with inherited mutations in BRCA1 and BRCA2 genes have increased susceptibilities for breast and ovarian cancers, which underline the need for genetic testing among the children at risk of developing these types of cancers.
The risk for developing breast cancer is rather dynamic instead of static. That means that previous information on the disease may not be definitive, as more information is uncovered regarding the pathogenesis of the disease. Previous statistics had pitted a lifetime prevalence of 12% for all those with inherited BRCA 1 and BRCA 2 mutations. However, current estimates indicate that about 55-65% of the women with BRCA1 mutations have a high probability of developing cancer, while 45% of the women with BRCA2 mutations have a high likelihood of getting breast cancer by age 70 (National Cancer Institute, NIH “BRCA1 and BRCA2”). Given that new information keeps coming up regarding gene mutations and cancer, more information on breast cancer and its causal factors will continue to increase as more research on the disease uncovers new information. It is also evident that as the person ages, the risk becomes even more pronounced, necessitating genetic testing to identify potential cancer patients for chemoprophylaxis and related prevention strategies. The presence of the various forms of BRCA1 or BRCA2 mutations within an immediate family provides near complete certainty that the individual may develop breast cancer within their lifetimes, necessitating the need for proper genetic testing and subsequent surveillance. Therefore, testing at risk individuals at 18 years and above facilitates easier identification of the possible mutations before the increased susceptibility occurs as the person approaches older age.
Genetic Testing for BRCA Mutations
Genetic testing for various disease is a relatively new way of identifying potential targets of a hereditary disorder in order to prevent the associated disease prognosis once the actual disease becomes diagnosed. The tests emanate from the growth in molecular genetics and the increased sensitivities and specificities of the methods employed in the process. According to Ross (120), genetic testing has resulted from the explosive growth of genetics in for the last two decades, making it easier to uncover the depth and breadth of molecular genetics to identify the mutations present in genes. The testing is a form of molecular genetic analysis that is used to work out whether or not a family member has inherited a variant gene that makes them susceptible to the disease in question (Faergeman 54). As a result, it is only through a careful genetic testing that the individual can assert their carriage status for the BRCA mutations.
Given that BRCA mutations are hereditary, it may mean that the mutations can either be autosomal recessive or dominant. According to Faergeman (54), a dominant gene mutation means that one allele of the genes is abnormal while the other is normal. Applying Gregory Mendel’s genetic crosses, it means that half of the offspring will bear the mutations. From this construct, half of the first degree relatives of the index offspring will most likely develop the disease, implying that first degree relatives (parents, children, brothers and sisters) will develop breast cancer (Faergeman 54). For that matter, it becomes prudent to screen all first degree relatives of an index patient who has just been diagnosed with breast cancer and is having BRCA mutations. However, if the mutation were to be autosomal recessive, then both of the alleles must be abnormal, implying that a quarter of the offspring will be affected. For that matter, brothers and sisters of the affected persons must be potential carriers for the BRCA gene mutations that predispose them to breast cancer (Faergeman 54). Since autosomal recessive diseases are rare, and breast cancer affects 1 in every 9 Western women, it implies that BRCA mutations are inherited in an autosomal dominant manner. The high probability of developing breast cancer from first degree and second degree relatives means that there is a high likelihood for an individual that falls within these types of relatives to have BRCA mutations and consequently develop cancer.
The detection of BRCA mutations was instituted for individuals with a positive family history for breast cancer. Normally, having the mutations are almost always synonymous with developing cancer for the individuals that fall with the affective domain of the family pedigree analysis. The probability is even higher for if both parents are implicated in the pedigree. That means that if the paternal side and the maternal sides have heritable BRCA 1 and BRCA2 alterations, then, instead of the 50% chance of acquiring the disease from one parental line, the risk for breast cancer is bilateral if both parental lines are involved. With parents and children being first degree relatives, it means that if the mutation occurs in either of them, then the chance that their offspring is going to be a potential breast cancer victim, warranting the need for genetic testing to prevent the morbidity and mortality associated with the manifestation of the disease.
In as much as gene testing may be helpful for those with BRCA 1 and BRCA 2 mutations, there are numerous issues relating to the testing process. These issues arise from the psychological impact of the testing process, the spiritual or religious and ethical aspects, as well as the potential benefits versus risks emanating from the test continuum. Regarding the psychological anecdotes of gene testing, research indicates that gene testing is leads to possible anxiety, depression, and distress, both on the part of the patient tested and close family members. According to Ross (118), about 10% of those undergoing genetic testing have a pre-existing susceptibility to developing psychological distress. It is generally assumed that the psychological distress arises from the anticipatory state the individuals position themselves in as they await the results of the test. Being considered a carrier of BRCA1 and BRCA2 gene mutations is considered affective arousal and mood destabilizing to the extent that the person becomes distressed, anxious, or depressed (Ross 118). The anxiety comes from the waiting and not knowing the results of the test. Besides, the manner in which the test results are conveyed, as well as the psychological measures adopted are equally distressing since they tend to reinforce the patient’s fear that they may likely be BRCA mutation carriers. Ross (120) reports that indices of depression and anxiety are higher when individuals undergo the test. The indices are especially higher for carriers than non-carriers, because these individuals usually perceive that once they have the altered genes, they have an almost certain probability that they will develop breast cancer; hence the increased psychological disturbances (Caplan “Get Ready for the Risks of Genetic Testing”; Hofmann 221). Besides, the likelihoods of false positives are equally depressing for individuals with false carrier statuses, thereby heightening their psychological distresses. These realities mean that only adults above 18 years with mature emotional and psychological wellbeing can handle the disturbances associated with the outcomes of the test results.
Considering that genetic testing is psychologically distressing, the ethical issues associated with the test process and results communication need to be handled delicately to prevent more harm to the patient. Already, the individuals awaiting the test process are anxious and depressed to some extent, suggesting psychological harms to the test process. Given that the risk-versus-benefit ratio underpins most of the ethical issues associated with medical testing, if the perceived harm caused by the test may exceed the benefit of the process, ethics demands that the individual should not undergo the process (Ross 119), alluding to utilitarianism. Besides, if the individual to be tested is the sole household provider, the harm can even be multifaceted, alluding to the fact that these individuals will experience additional costs in lifestyle adjustments to meet the dietary, exercise and prophylaxis treatment (Hoffmann 226), as well as breaking the news to children or close social contacts (Barness et al. 480; Hoffmann 223).
Furthermore, spiritual or religious affiliations may hinder the individual from undergoing the test, despite a positive family history involving first degree and second degree relatives, as well as awareness of a familial member who has died or has breast cancer. These individuals have strong spiritual and religious convictions that their healing is beyond their control and instituted by a supernatural being. For Christian patients, they believe that their lifelong days are numbered, meaning that irrespective of the interventions, they will still die if that day reaches. Moreover, they believe that God is in control over their lives, and as long as they are alive, he guides them through their lifelong years until their last days. Such beliefs are obtained from the scripture as follows: “For thou hast possessed my reins; thou has covered me in my mother’s womb” (New International Version, Ps. 139.13), “And he said unto me, My grace is sufficient for thee” (New International Version, II Cor. 12.9), and “Have I not commanded you? Be strong and courageous. Do not be terrified; do not be discouraged, for the Lord your God will be with you wherever you go” (New International Version, Joshua 1.9). Such religious constructs confer strong convictions that cannot be wished away, and must be ethically respected even if the patient has a moderate to high risk of breast cancer from the BRCA mutations. Additionally, the individual’s decision to undergo the test is based on the availability of resources (health insurance cover) and the cost-effectiveness of the test adopted, together with the pros and cons of the whole procedure (Medical Innovation 1). These aspects also guide the informed consent that is needed for the commencement of the test procedure, and since, minors have no legal and moral obligations to grant consent, only those above 18 years are capable to make such decisions, having considered the relevant background information and the ethics involved.
After clearing the patient for genetic testing, the geneticists do not just usher the individuals into the test rooms. They conduct proper genetic counselling that will minimize the psychological disturbances and other harms caused by the test continuum. Faergeman (54) contends that genetic counselling entails giving the person the relevant information and matches their needs and expectations, as well as psychological interventions that minimize the incidences of distress, anxiety and depression. The counselling process involves information gathering, risk assessment, cancer diagnosis, information giving, psychological evaluations and related psychosocial support, helping the client make decisions, and facilitate ongoing client support. According to the National Cancer Institute of the National Institute of Health (NIH “BRCA1 and BRCA2”), the counselling process should target the patient’s holistic care attributes because such information is crucial before and after the test to enable the clients acclimatize to their outcomes and minimize the psychological disturbances associated with positive or negative outcomes. The counselling can also dispel some of the commonly held misconceptions regarding the results. Research has shown that some of the most commonly held misconceptions regarding the test outcomes are that positive results are definitive of inherent cancer or cancer already developing, and that negative outcomes imply inherited cancer susceptibility is not present, cancer is not present or will not develop. However, Collins (172) reassures such patients that the probability of a positive or negative results is not always indicative of the cancerous growth status or that the individual will develop the disease in their lifetimes. As a result, counselling is essential in absolving such misconceptions and allowing the patient to weigh the outcome of the risk-benefit analysis before consenting to the procedure. The counselling also allows the patient to decide on the test procedure to be used, and any other relevant information related to the process continuum.
The outcome of the genetic test is often crucial in the next courses of action to be undertaken by the patient. Those tested may find themselves to have complete or incomplete penetrance. Gene penetrance allows the individual to ascertain their probability of developing the breast cancer. This is based on the positive predictive value arrived at by the test result. According to Caplan (“Get Ready for the Risks of Genetic Testing”), most of the commercially available test procedures have significant future predictive outcomes for breast cancer, although the incidences of false positives cannot be completely ruled out. After obtaining the test results, the next issue is communicating the results to the patient and their families or significant others. In this era of person-centered care, the clinicians need to identify patient-centered tactics of communicating with the patient and their respective families, especially if the test outcomes are positive. The accurately determined positive outcomes are bad news to the patients (Caplan “Get Ready”; Hoffman 221), and if the information conveyance is not handled well, those findings will trigger psychological disturbances that may potentiate anxiety and depression (Ross 120). Barness (479) recommends client-centered doctor-patient communication in the delivery of the breaking news to the patient. This type of communication considers the diverse patient backgrounds and social responsibilities, as well as their coping strategies upon meeting disruptive events in their lives (Wright 226). Such information is already available to the clinician during genetic counselling prior to the testing procedure, and because designing an appropriate communication plan utilizes big patient data obtained in the course of doctor-patient interactions, the clinician is bale to extract useful information for a personalized approach to patient communication and treatment plan. The personalized medicine is a deviation from the “one-dose fit all” principle of traditional medical care into individualized care that is sensitive and respects the patient needs and expectations (Gu, Taylor & Phil 2; Petersen et al. 210; Rosenkrans & Wayne 172).
Apart from person-centered communication with patient, the clinician needs to develop strategies that will help the individuals break the news to their families or significant others in case the patient is not with them during the test procedure or where the patient conducts the genetic test secretly. Forrest et al. (998-999) observe that children are usually aware of their parents’ experiences despite their age, and through routine interactions, they establish that something is wrong, even if the parents attempt to conceal such information from them. In their study of the children’s perceptions towards their mother’s cancer and initial treatment, Forrest et al. (998) found out that young children were fully aware of the changes that occur in their parents’ lives, implying that parents need support from doctors in disclosing such information to their children. The revelations of BRCA mutations can be psychologically damaging to parents and their children if the outcomes are concealed (Forrest et al. 998; Robin “Personal Interview”). By personalizing the care process, the clinicians will offer client-centered information that allows the patient and their families to be educated on the BRCA mutations and genetic testing. They will direct them on the appropriate websites, journals and other literature publications that enables to access and utilize useful information on breast cancer.
Breast cancer is a prevalent disease among Western societies with a prevalence of 1 out of 9 women. The disease has been linked to specific gene mutations that are not only heritable but also predisposes the individual to cancer development. The BRCA 1 and BRCA 2 mutations are the commonly implicated in the pathogenesis of breast and ovarian cancers, as well as other forms of cancer. First and second degree relatives have increased probability of developing cancer if they have a family member with the disease or died from it. Because of this increased risk, it is recommended that they undergo genetic testing to determine their gene penetrance. Given the psychological disturbances of the test outcomes, genetic counselling is very crucial. However, irrespective of the test outcomes, the patients need personalized care in dealing with the test findings and making them available to their respective family members or significant others. Therefore, given the likelihood of psychological disturbances following genetic tests and the need for consent, it is recommended that persons aged over years and at risk of BRCA mutations should be tested.

Works Cited
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August 09, 2021




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