22 Dec 2022

79

Genetic and Genomic Assessment Findings and Diagnostic Result

Format: APA

Academic level: College

Paper type: Case Study

Words: 1184

Pages: 4

Downloads: 0

The patient was came in with history of a massive swelling on the left breast. Patient reports that the swelling started as a small swelling 1 year ago and has progressively increased in size over the years. Patient reports no trauma to the affected breast. She reports to have been using oral contraceptive pills for family planning. Her menarche was at the age of 12 years and the periods have been regular. She reports that the maternal grandmother died of breast cancer. On examination, her left breast had 3 lumps. They were firm in nature, non-tender and were highly mobile. There was no skin color change on the breasts and the nipples had normal configuration. There was axillary no lymphadenopathy on both the left side and right side. The left breast was normal in shape and appearance. Biopsy results did not show any signs of malignancy but suggested fibro adenomas of the left breast and the plan was to carry out excision in minor theatre. The family history of having a relative who had died of breast cancer strongly indicated the need to carry out genetic testing to rule out the presence of any cancer gene. The test results of Patient X were positive for the presence mutations of harmful mutations affecting BRCA 2 genes which is an indication of a high risk of developing breast cancer later in life. The mutation was found to be homozygous in nature which further increased the risk of the patient to develop cancer later in life. 

Ethical considerations 

In genetic testing, various ethical considerations must be made before the decision to take the test is arrived at. The first ethical consideration is the issue of informed consent. Genetic testing is a weighty matter that must only be done with the approval of the patient because of the wide ranging ramifications that are associated. Another ethical consideration is whether to disclose the test results to other family members especially when the test turns out positive because this might have implications to other family members in the sense that other family members could also be at risk and hence the need to inform them early so that they can seek intervention early enough. Another ethical consideration is whether to inform the patients partner regarding their condition because the risk of developing cancer means that the partner is at risk of premature death and huge financial obligations involving the treatment of the disease. 

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In this particular case, the clinician is faced with a dilemma of whether to reveal the test results to the close relatives and break their confidentiality obligation to help save another life. The problem of not disclosing the test results to the family members means there is a possibility of an at-risk person living without taking the necessary measures to protect themselves from the disease out of lack of clinical knowledge (Lea et al., 2005). Another ethical dilemma is whether to revealing the test results to the patient’s partner given the hereditary nature of the condition as this might trigger a divorce or trigger a familial confrontation given that the patient might die prematurely from the disease leaving the partner with the sole responsibility of bringing up the children as well as the huge financial implications that might arise in the course of treatment of the disease. Arguably, the clinician must make consideration of all these ethical dimensions; that is why psychotherapy must be part of the treatment plan to help the patient deal with their post-diagnosis period phase. 

Ethical theoretical foundations 

The paradigm of the ethical responsibility of the doctor to the profession and abiding to the principles of confidentiality demands a careful evaluation and analysis of each decision that they may have to take that is contrary to their codes of the profession. The principle of confidentiality dictates that the doctor should keep the information regarding their patient very confidential. Confidentiality can only be breached if the health of other people is at risk for not disclosing the patient’s status particularly in cases of infectious diseases. The rationale is that it is better to save more lives than saving one life and putting more lives at risk as outlined by the beneficence principle ( Fulda et al, 2006) . More so, the autonomy theory, on the other hand, suggests the personal obligation an individual respecting the autonomy of the other person hence the need to get the permission of the patient before initiating genetic testing on them. 

Relevant Legal and Professional Policies 

In the genetic testing paradigm, various issues emerge as very potent to the spectrum of the legal framework and the policy issues that the genetic testing ascribes to. Like the other fields of medicine, the genetic testing scope must adopt such strategies that ensure that they follow the legal frameworks to avoid cases of litigations. In retrospect, the emerging issue mainly revolves around the privacy and autonomy issues that apply when persons subject themselves to the testing case ( Fulda et al, 2006) . In some of the rare cases, some practitioners have had problems with the law and thus have been liable for the violation of the existing laws that assert that at all times, the two doctrines must be applied in a simultaneous sequence when conducting tests. As such the use of a patient’s tissue without their consent violates the law and policy frameworks that make it a crime for individuals to especially when there is no consent to either share their test results with third parties including a close relative or forcing close family members to test to determine whether or not they have the genetic mutations contrary to their wishes (Fulda, 2006). Thus, at all times, the tests must ensure that the legal and ethical principle of Informed Consent applies at all times when conducting testing. 

Interprofessional Care 

The diagnosis of Patient X requires that they begin an intervention plan within the shortest time possible because the fact that they are positive for BRACA2 mutation puts them at high risk of developing breast cancer which is highly lethal. Multidisciplinary care is needed in this situation because of the wide range of needs of such patients. As it were, the diagnosis leaves the patient requiring psychotherapy and psychosocial support which calls for counsellors and psychologists to come on board, there is also need to work closely with an oncologist to detect and treat early stage disease, collaboration with pathologists and radiologists is also needed for detection of any form of malignancy. 

Nursing Care Strategies 

For patient X, there is need for the incorporation of nursing care strategies that help to improve their conditional through: 

Genetic Counseling Care- The integration of the counseling programs helps to empower them psychologically on dealing with the disease 

Education- The nurse has a very important role to play in this case namely patient education. It is the responsibility of the nurse to educate the patient on the danger signs to watch out for so that they can seek medical attention early enough. 

Family support- the nurse should act as the patient’s advocate and ensure that the patient and the family get enough support to overcome the situation. 

In summary, the fact that the patient is clinically at risk, there is a need for interventions to mitigate the development of cancer soonest possible begin soonest as per the Guidelines by National Comprehensive Cancer Network (NCCN). Collaboration with various stake holders is key to ensure that the situation is managed effectively. 

References 

Fulda, K. G. (2006). Ethical issues in predictive genetic testing: A public health perspective.  Journal of Medical Ethics 32 (3), 143-147.  https://doi.org/10.1136/jme.2004.010272 

LEA, D., WILLIAMS, J., & DONAHUE, M. (2005). Ethical issues in genetic testing.  Journal of Midwifery & Women's Health 50 (3), 234-240.  https://doi.org/10.1016/j.jmwh.2004.12.016 

Levy-Lahad, E., & Friedman, E. (2007). Cancer risks among BRCA1 and BRCA2 mutation carriers.  British Journal of Cancer 96 (1), 11-15.  https://doi.org/10.1038/sj.bjc.6603535 

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StudyBounty. (2023, September 16). Genetic and Genomic Assessment Findings and Diagnostic Result .
https://studybounty.com/genetic-and-genomic-assessment-findings-and-diagnostic-result-case-study

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