Lynch Syndrome Analysis

   The Human Genome Project is the largest scientific endeavor undertaken since the Manhattan Project, and, as with the Manhattan Project, the completion of the Human Genome Project has brought to surface many moral and ethical issues concerning the use of the knowledge gained from the project. Although genetic tests for certain diseases have been available for 15 years (Ridley, 1999), the completion of the Human Genome Project will certainly lead to an exponential increase in the number of genetic tests available. Therefore, before genetic testing becomes a routine part of a visit to a doctor's office, the two main questions at the heart of the controversy surrounding genetic testing must be

It is patients’ right to opt for genetic testing on their own DNA, although they are accepting a great risk by doing so.

Genetic testing has become a highly controversial issue among both the general population and the scientific community. It is a process that exposes a person’s entire genome sequence, allowing it to be read and evaluated to identify potential risks for genetic diseases or diseases that could be passed onto offspring (Holt Productions, 2012). With thousands of genetic tests already being used, and more being established, it seems logical to put this growing technology to use. Some agree that it is a person’s right to know and understand his or her genetic makeup. However, others argue that, despite the benefits of genetic testing, caution should be used to carefully inspect the risks associated with this new technology.

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

As a more cost-effective practice, clinicians make use of a person’s family history, instead of genetic testing, to

Subsequently, each cell that develops from the fertilized egg will receive this mutated gene. He states that for a cancer to manifest, two mutations must occurs. In hereditary cancers, the person inherit one mutant gene. The second mutation occurs as result of a mitotic error during the many cell division that occurs in the person's lifetime. In sporadic cases both mutation occur in the person's lifetime. In sporadic cases both mutation occurs after fertilization an are acquired much later in life. From this Kudson conclude that hereditary cancers manifest at younger age and there is a higher incidence of multiple tumors, where sporadic cancers occur late in the life and usually only a single tumor occurs. The principal causes of cancer appears to be environmental agents. A good example of this is skin cancer. The condition has increased among fair skinned people who expose themselves to too much sunshine, while being very uncommon among dark skinned races (knudson 1971, cited in Ormiston, 1995). Therefore, most genetic alteration are acquired through our life time from environmental carcinogens with only a small percentage been inherited. However, inherited cancers are very important as it appears that the genes responsible for, hereditary cancer maybe the same as those involved in sporadic malignancies.

The use of WGS brings to light several ethical issues. First, the majority of patients that come for initial diagnosis are minors. Therefore, it is usually a parent or guardian that consents to the any testing which raises the issue of what results to report back to the patient and family. The European Society of Human Genetics has recommended to filter out known variants that have little or no clinical utility. While the American College of Medical Geneticists states that there needs to be a respect for autonomy, report all incidental findings regardless of age, and proposes patient’s decision shall apply to the entire set genes deemed actionable. Although, the Canadian College of Medical Geneticists recommends communication to parents about all results of a clinically actionable conditions that will present during childhood; furthermore, adult-onset should not be disclosed unless it could prevent harm to the health of the parents or other family members and if the parents desire the disclosure (Szego & Zawati, 2016).

With three members of my family having breast cancer, it is believed that getting genes tested for mutations would be a intelligent decision. Due to breast cancer being a common disease in my family I decided to investigate scenario three into further detail. I feel it would be beneficial to get my genes tested to determine if I have a chance of being diagnosed with breast cancer in the future.

Imagine a cancer that creates cancer. Lynch syndrome, which is also known as hereditary nonpolyposis collectral cancer (HNCC) is an inherited disease that is a passed down trait that increases your chance of colon cancer and other cancers as well. The cause is the trait being passed through families. There are no symptoms since it is simply passed down. They just have increased probability of developing bowel, colon and other cancers.

In one hand are all the elements and examples of misuse of this data that have contributed to the reality in which consumer groups are arguing that more access will increase discrimination in insurance premiums based on existing conditions and can also discourage individuals from undergoing genetic testing that may provide health benefits (Katrina Armstrong). However, on the other side are arguments that support the fact that greater access to genetic testing will be helpful in the early treatment and diagnostics of certain diseases. Likewise, since all of us have genetic predispositions to some disease, and many of them can be avoided by modifying lifestyle and with the help of early medical interventions, it is of extremely significance the genetic screening process and the access to this information (Robert

Lynch syndrome is a cancer that can lead to colon cancer and other deadly cancers. The major causes of lynch syndrome is MLH1, MSH2, MSH6, PMS2, APC, BMPR1A, MUTYM, PTEN, SMAD4, STK11, TP55, EPCAM. People have a high risk of large bowel cancer as well as cancer of the endometrium, stomach, small bowel, upper urinary tract, ovaries, and the brain.

I was reading an article titled "Breast Cancer: Predicting Individual Risk", it is written about a doctor at the mayo clinic in Rochester, MN. "He is widely regarded as the one of the international leaders in the genomics of breast cancer." He says, " Two women with the same high-risk mutation in a breast cancer gene- and thus the same sixty-five percent lifetime risk of breast cancer- could, in fact, have very different outcomes. Depending on how the other 20,000 odd-genes in her genome might be acting in the background, one woman may develop breast cancer at an earlier age, and the other might not even get it (p. 1-2)". He is studying to give women the best information on their genes as possible. Doctors are learning way more about this disease than other doctors in the past which is in return helping woman of all ethnicities with their road to recovery and healing processes. Young states, "According to the American Cancer Society about 230,500 women in the United States have been diagnosed with invasive breast cancer this year. Nearly 40,000 women are expected to die from this cancer this year. Only lung cancer causes more cancer deaths in women (Young, 2011, p. 1)". That is still a big number of women that do

For familial adenomatous polyposis, predictive genetic testing is generally offered to child 10 years old or older who had a family history of familial adenomatous polyposis; however, some people might opt to have the test at an even younger age. Caga-anan et al. stated that children with FAP can benefit from medical screening and preventive measures through predictive genetic testing (2012). Early detection of an APC mutation would change medical management of children. There had been reported cases where children develop polyps before the age of 10 (Jerkic et al., 2005). Crawford and Lucassen (2009) reported a case when a child was tested for a familial APC mutation at the age of 9 months. In this case, the main motivation for testing at the very young age was to enable better family planning. Depending on the carrier status in the first child the couple would make reproductive choices about further children, motivated by the feeling to have a duty to stop the predisposition from being transmitted to future generations. Kattentidt-Mouravieva et al. (2014) evaluated 13 children who were tested for FAP at the age younger than 10 years; 7 were mutation-carriers and 6 were non-carriers. Parents of these children were re-contacted and open-ended semi-structured interviewed. None of the contacted parents regretted

Genetic testing, or a referral to a genetic counselor, is the standard of routine OBGYN care for women with an increased lifetime risk. As the Pap Smear has screening guidelines and indications, genetic testing must also adhere carefully to evidence-based recommendations. Providers should not endure referral bias. Rather, they should follow the recommendations brought forth by ACOG. Shared decision-making should be used; however, it is the responsibility of the healthcare provider to deliver the education on screening guidelines. Even if the patient declines, she will walk out of the exam room with awareness. During a large qualitative study done in 2015, awareness

Lynch syndrome, previously known as hereditary nonpolyposis colorectal cancer (HNPCC) is a parental inherited condition that exposes a person to the risks of cancers, but most commonly colon cancer1-9. It is a heterozygous autosomal dominant genetic condition, which means that if only one parent carries the gene for Lynch syndrome (LS), then a 50 percent chance of passing on the mutation will be passed to each child1-9. LS is limited to families with a known pathogenic germline mutation2. A germline mutation is when mutations occur in the germ line, which is a group of cells that contribute to the improvement of gametes2,3,10. To find out how individuals are to contract this disease, the family medical history must be taken into account. Early