An overview of mutation detection methods in genetic disorders. Iranian Journal of Pediatrics. 2013;23(4):375-388. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3883366/. Accessed February 3, 2014. This research paper outlines common mutation detection methods used in genetic counseling to uncover preexisting genetic conditions. There are three main groups: single gene (errors in DNA sequence), chromosomal (structural damages) and multifactorial disorders. Molecular and cytogenetic techniques were discussed. The article stresses that an accurate diagnosis is essential for appropriate treatment. It reviews patterns of inheritance and describes a few chromosomal disorders. The concentration of these detection methods are focused on the …show more content…
Psychological distress with direct-to-consumer genetic testing: a case report of an unexpected BRCA positive test result. Journal of Genetic Counseling. 2012;21(3):399-401. doi:10.1007/s10897-011-9475-5. This case study reports a client who underwent elective direct-to-consumer (DTC) genetic testing in the absence of genetic counseling and discovered she had a BRCA mutation. The DTC she took was a single nucleotide polymorphism (SNP) microarray analysis advertised online. It was found that she had high levels of anxiety, distress and a lack of knowledge of what the DTC test outlined. The client admitted not being mentally prepared for the information she received. Genetic counseling helped lower her anxiety levels and eventually left her feeling empowered. The outcome of this case study supports that significant distress may be caused by DTC tests. Pre and post genetic counseling in conjunction with DTC may eradicate most of this stress.
Article Type: Case study
Comments: This case study highlights a main problem with DTC tests. The client went through amplified stress, which could have been avoided by genetic counseling. Interestingly,
Genetics has become a very important topic of discussion in the healthcare field. There are more and more diseases being linked to certain genes in the DNA. Carrier: Untangling the danger in my DNA, by Bonnie J. Rough, is one example of the modern problems people have to deal with in regards to genetics and genetic testing. The author writes about the problems she faced. She had some very difficult decisions about her possible offspring as well as herself. Rough writes about her struggle with deciding if she should get a genetic test for a gene that causes a disease that has been passed on through her families for generations. The reader also learns about her and her husband’s experience of getting pregnant and the steps they took to try
I do not believe that “direct-to-consumer” genetic testing is wise, especially without the involvement of trained professionals or set guidelines. As mentioned in the prompt, some of the risks that I believe are important involve the ethical and social challenges direct-to-consumer testing can create as well as the complexity of certain genomic tests.
It is patients’ right to opt for genetic testing on their own DNA, although they are accepting a great risk by doing so.
“Fear is not real. It is the product of thoughts you create. Danger is very real, but fear is a choice.” Personally, I would not take a genetics test to find out if I was at high risk; and, to many this might sound odd coming from someone who is planning to pursue a career in the sciences. I am uncertain if my DNA holds the BRCA gene but like Cynthia Graber I am certain of one thing, myself.
Modern medicine now relies more and more on genetic science, so the demand for health care professionals who can assess and communicate these health issues is significantly increasing. This is because public awareness is growing in conjunction with scientific advances in reproductive technologies. Health care consumers now want genetics specialists who can provide highly accurate and advanced consultations regarding their unique genetic conditions. Most genetic counselors work with couples or single mothers who
When providing genetic testing services, the doctor or counselor should follow a set of principles. The doctor is obligated to explain the procedures and their purposes, describe the risks and benefits to be expected, inform of other alternative (possibly advantageous) procedures, disclose the range of decisions the patient may have to make, and answer all questions openly and
Due to the lack of adequate interpretation, I do not foresee buying my genome sequencing in the near future. A few of my close relatives have certain medical conditions that concern me, such as diabetes, cardiovascular disease, and rheumatoid arthritis. Even so, I prefer to live a life without the fear of what my DNA profile might uncover. If the test determined that I have an increased risk of developing Alzheimer’s disease, my stress level may increase every time I lose my keys. For example, I have a friend that was terrified of having a child that may have schizophrenia because the child’s grandmother suffered from the condition. During her daughter’s infant years, my friend suffered from stress as she watched for any sign of mental illness in her daughter. My friend suffered from constant worry and guilt that her child would become ill. Her daughter is almost thirty now and she shows no sign of the disease. Even though the test may reveal an increased risk for certain conditions, it is not advanced enough to predict with certainty what my health picture will be in thirty years. I believe in knowing what family risk factors affect me and
With this special bonding, if an individual was tested positive for BRCA1/2 mutation, it will be a great indicator that someone in the family also carries the mutated gene. There is a moral argument for whether it is obligated to share the genetic information with relatives who may potentially be at risk; however, this decision can violate patient autonomy and confidentiality. Studies have shown that most mutation carriers do not share this information with his/her family member, because it can cause tension in the relationship. In addition, if the mutation carrier decided to receive therapeutic treatment such as BRMx or BROx, the decision that the carrier made can further introduce suspicions and questions from the
Genetic testing has brought about many changes in the way many couples look at conceiving and raising families. Through genetic testing you are able to screen for the increased chance that a fetus may have one of many congenital disorders, or even identify gene changes that are responsible for a disease that has already been diagnosed (Genetic Testing, March 2015). Unfortunately genetic testing is not always exact, in some cases giving parents false negatives or false positive results. Even if the results are accurate, there is the burden of knowledge once you know the results indicate a genetic abnormality such as Down’s syndrome. While caring for a 2 year old male patient with developmental delays and anotia, I learned that genetic testing had been started but never completed on the child. Genetic testing could help to identify genetic disorders that led to the child’s developmental delays and possible future disorders that may develop. The ethical dilemma I will be discussing to the ANA Ethical dilemma of the impact of informed consent of genetic testing on children for adult onset diseases and disorders.
If the genetic information is only accessible to the individual then there is a decreased chance of such discrimination occurring because the information is disclosed to who the individual wishes to. Genetic information can raise questions about personal responsibility, personal choice versus genetic determinism, and concepts of health and disease. Personal factors, family values, and community and cultural beliefs can mould the reactions to these issues. For example the response to the genetic information and suggestion from physicians after the test will be drastically different in a society where traditions and religion determine life choices, such as India, than to a more individually liberal society like the USA. Even in a progressive society that has had specific ethnic groups for multiple generations disparities with medical technology are common. A study conducted, using the national representative data, in the USA with the sample that consisted of 1724 men and women of non-Hispanic whites, Latinos, and African American background. Results exposed significant differences by racial/ethnic groups in knowledge and concerns about the potential misuse of genetic testing. Significantly higher levels of mistrust in a physician and the medical system was a common thread within minorities. The genetic tests can be a way of ridding anxiety attached to the assumed inheritance of genetic disease due to family background whilst for others the genetic test reveals their reality. The results can have a great deal of a psychological impact upon the individual. The possibility of developing a genetic disease alone can create anxiety within some. The psychological impact from the results revealed is another issue that society is concerned about. A
Although the gene chip will enable an individual to know whether he/she has a genetic disease, that person may not want to know the information. Many people are frightened that a positive finding on a genetic test will result in discrimination and ostracism because the society will consider them abnormal (Easthope 2005). The other concern is that with genetic test information one might lose or might be unable to get a job or insurance. There have been concerns that with the knowledge of one’s medical information after a gene test, he/she might suffer a psychological problem especially when the results reveal that one suffers from a terminal disease or has high possibility of suffering from one (Willis 2009).
Only 2 genetic counselors had their employer’s specific genetic counseling website links as part of their contact information. The Children Hospital’s Colorado’s website mentions the services provided by a genetic counselor if a genetic mutation is found for hereditary cancer (Hereditary Cancer, 2016). However, I could not find genetic counseling for other types of conditions and diseases. Overall, the genetics information on this website is scarce. In contrast, Parker Adventist Hospital has much more information about genetic counseling on its website, especially for hereditary cancer, breast cancer, and cardiovascular conditions and diseases (Genetic Counseling, 2016). Both websites are very informative about genetic counseling – presenting current detailed material in an organized format without appearing to be pushy or aggressive toward the reader about this
A lot of controversial issues present themselves in psychology. Two topics that I will be discussing in this essay are the controversy over genetic testing and what things would be like without genetic testing. I will be describing what genetic testing is, and how it can affect an individual’s family life. I will be discussing the benefits of genetic counseling, as well as the positives without genetic counseling, and how this issue is debated in a psychological view.
Here is a real life story of a woman who has been greatly affected by genetic testing and has seen both the good and the bad of genetic testing. This is a story that was posted in an article called “6 Moms Share Their Real Prenatal Testing Stories” on the website “What to Expect” from Courtney from Lake Stevens, Washington about how genetic testing has affected her life. So for Courtney, a few weeks after her 13 week ultrasound and her quad screen her doctors told her she had a positive screen for Down syndrome. So at 17 weeks she had to go back in for another ultrasound and genetic counseling which according to kids health.org is counseling that allows a genetic counselor to evaluate the results of a genetic test with the parents and helps the parents understand and reach decisions on what to do next. Her ultrasound looked great but still had a positive screen for Down syndrome. So she was was recommended for either an amnio or verifi test. Courtney then went to genetic counseling and choose to have the verifi test done over the amnio. A week later her results came back negative for Down syndrome and confirmed the baby was a girl. Courtney said “I am glad we opted to get the verifi test done especially after the stress of getting a positive screening before. I like how that if the NIPT did turn out positive for Down syndrome, I could have prepared ahead of time for the care of a special needs child would require, rather than feeling completely caught off-guard at birth.”
When I was told that I was going to get my DNA test results back, I felt two distinct emotions during that moment of waiting. Nervousness and excitement followed. True fully, I’ve always thought I knew what I’m susceptible to getting in the future or right now in the present. Due to the fact, I’ve had a talk with both my parents about what family diseases are getting passed along in both my family trees. It’s pretty common diseases: diabetes, hypertension, Parkinson, asthma, hearing loss, and COPD, etc. The few minutes of waiting to get my test results back, made my anxiety levels increase as well as my emotions increasing. When I was given my test results, I immediately ripped open the envelope and read the company’s informational letter. It described to me what PersonaGen Cooperation stands for, Privacy Policy, and how they were capable of finding out certain information about me through viewing my genetic data. I then seemed at my test result paper seeing that I have three different chromosomes that show I’m homozygous or heterozygous for those traits. These results will either show what I need to commute on my health of living style, and what precautions I might need to take in the near future. All I know is that it’s make or break time.