PEDIGREES AND HUMAN DISEASE
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PEDIGREES AND HUMAN DISEASE
Q1.Genetic testing
There are various genetic testing available for breast and ovarian cancer, and colon cancer as well. This examination assists an individual by estimating the probability of cancer development within their lifetime. It analyzes specific changes within the genes, proteins, or chromosomes, also called mutations.
Breast cancer
It applies the BRCA gene test, a blood examination using DNA analysis to diagnose harmful mutations in the breast susceptibility genes (Mayo Clinic, 2020). Individuals who have inherited mutations of such nature are at higher risk of developing ovarian and breast cancer than other populations.
The BRCA test is provided to people with more likelihood of inheriting a mutation about their family history or personal background. A positive outcome would mean a person carries the gene mutation, which elevates their risk possibility, and thus one can work closely with a doctor to control the risk (Mayo Clinic, 2020). An unfavorable outcome depicts a mutation absence or that a person might have a mutation that has not been discerned yet. Also, the test can discover a variant, which the doctors may not be aware about.
Colorectal cancer genetic testing
The genetic test that can be undertaken to determine if an individual has a genetic alteration, which can predispose the person to colon cancer, comprises tests for APC, MSH2, MUTYH, MLH1, MSH6, and PMS2 mutations (Memorial Sloan Kettering Cancer Center, 2020). Physicians and counselors on genetics can help one understand their risk of getting cancer and the kind of genetic tests that are useful for the person (adam or another member of the family).
Q2. Yes, it would be recommendable for Adam and Sarah to know the results of the inherited diseases of their family, such as cancer, TSD (Tay-Sachs disease), and heart disease tests. According to Stenehjem (2018), BRCA1/2 testing has also been found to comparatively minimize decisional conflict scores in patients since they can receive a test outcome and ne informed by these results.
Secondly, women with a long-standing family history in the breast or ovarian cancer should prioritize genetic testing to verify if they have a mutation in BRCA2, BRCA1, or a gene responsible for hereditary nonpolyposis involved with colon cancer. However, genetic counseling helps to evaluate the history of the family and ensure the latter inclines with a hereditary cancer pattern.
Q3. A responsible parent would want to collect information that makes them aware of the situation. Consequently, the parent can have the chance to manage or avoid the disease if there is a chance. It will also ensure that the children bore have no such severe ailments in the future since it is necessary for a parent to provide better health to their children.
Q4. A genetic counselor helps a person comprehend and manage their cancer risk with or without genetic tests. Secondly, since cancer treatment or management necessitate different strategies. A genetic counselor can provide advice to remove the colon or breast areas for people at risk to help the person prolong their life or live if there is a chance. Thirdly, through a doctor, a genetic counselor can prescribe medications that minimize an individual’s risk while analyzing the cancer signs with time. Fourth they also offer patient care in oncology and provide information while exploring the situation of the client.
References
Mayo Clinic.BRCA gene test for breast and ovarian cancer risk. Retrieved from https://www.mayoclinic.org/tests-procedures/brca-gene-test/about/pac-20384815. Accessed on 9/22/2020.
Memorial Sloan Kettering Cancer Center.Inherited Risk for Colorectal Cancer. Retrieved from https://www.mskcc.org/cancer-care/risk-assessment-screening/hereditary-genetics/genetic-counseling/inherited-risk-colorectal. accessed on 9/22/2020.
Stenehjem, D., David et al. (2018). Impact of a genetic counseling requirement before genetic testing. Published online 2018 Mar 7. doi: 10.1186/s12913-018-2957-5.
Skirton, Heather & Cordier, Christophe & Ingvoldstad, Charlotta & Taris, Nicolas & Benjamin, Caroline. (, 2014). The role of the genetic counsellor: A systematic review of research evidence. European journal of human genetics: EJHG. 23. 10.1038/ejhg.2014.116.