BE257 Scientific Literature Darren Walsh GCB2 Personalised Genomics: Are we there yet? Signature:__________________ Date:______________ Personalised Genomics: Are we there yet? Darren Walsh GCB2 Introduction Personalised genomics (PG) is the application of genetic sequencing and gene analysis techniques to aid personalised healthcare. This aims to increase the efficacy and improve the timing of therapeutic and preventative measures against disease by availing of an individual’s genetic biological markers. Personalised genomics can be used in many different ways such as: prenatal diagnosis, disease prognosis, disease diagnosis, stratified risk assessment, genome informed treatment and research relating to lifestyle choices and …show more content…
A major problem with clinical application of genomic information is the use of these biomarkers without fully understanding the mechanisms behind them. Without full understanding of the effects of a given SNP on protein shape, function, signalling cascade, gene regulation etc. it is impossible to predict the total effect which a given variant has on a given trait or disease (Zimmern and Kroese, 2007). SNP associations to disease can also vary depending on the population in question. A study on CFTR mutation frequency in patients clinically diagnosed with cystic fibrosis found that the mutation was present in 72.42% of Non-Hispanic Caucasians, 54.38% of Hispanic Caucasians and 38.95% of Asian Americans (Watson et al., 2004). It is this fluctuation of frequency of variations among different populations that leaves a question mark over the clinical validity of genomic …show more content…
This information is prone to change with new associations constantly being discovered. This opens the door for DTC sequencing companies to take advantage of new discoveries and charge the consumer for re-analysis of their genomes (Caulfield and McGuire, 2012). In a follow up report to genetic testing carried out on 2345 people, 61% didn’t feel the need to share their results with their GP as they found nothing concerning and 50% felt that they understood the results (Schmidlen et al., 2014). This report shows the dangers of people undergoing DTC testing and falsely feeling that they have no genetic predisposition to disease, when in fact, they might and it may just not have been discovered yet. The rise of prenatal genetic testing has brought many ethical debates. One such debate with prenatal genome analysis is the ability for parents to choose the inherited traits of their children. The rise in non-invasive prenatal genetic testing has paved the way for future screening for non-serious conditions and trivial traits such as eye colour, height etc. The ability for humans to choose the inherited traits of their progeny could create many social issues such as the formation of a ‘super class’ generation of individuals that are genetically ‘chosen’
Paper 2 A person who owns a small portion of someone's genes may be the deciding factor on whether a person's illness is further researched or put on hold. Should a person be given this much power over our very genes inside us whose research could save lives and cure diseases? A physician, Michael Crichton, who wrote “Patenting Life” and a economist, John Calfee, who wrote “Decoding the Use of Gene Patents” both discuss this medicinal dilemma.
“I also look at how to optimize risk prediction and prevent type 2 diabetes in high risk racial groups.” Flowers lab is a mixture of dry and wet labs and she collaborates with other faculty members, including Assistant Professor Kord Kober, PhD, Ladder Rank, another UCSF genomic laboratory lead. They manage and oversee the Nursing Genomic Lab together. Their lab functions as a resource to faculty and Flowers and Kober manage faculty activities and facilitate faculty research.
Ethical Considerations in Genetics and Genomics Ethical duties of genetic testing is a challenge among healthcare workers. Ethical dilemmas are created due to situations resulting from genetic testing. Ethical dilemmas is created when genetic testing reveals vital information to a patient and the patient refuses to disclose information to family members that can be affected. Healthcare workers are to protect the privacy of patient’s health records according to the Health Insurance Probability and Accountability Act (HIPPA)
Self-report assessments possess the possibility of response bias and test taking attitudes. Clinicians will use the results to inform a diagnosis when participants may have been untruthful when taking the assessment (Craig, 2005). It is essential clinicians use assessment results with caution when making conclusions for a
To begin, the film Gattaca surrounds the idea of DNA profiling and in-vitro fertilisation (IVF), which are two authentic scientific concepts prevalent in modern society. For more than a decade before the premier of Gattaca, doctors had already been using
In the Laci Peterson’s case, it was determined that the hair DNA could be found in 1 out of 112 white people(Richman,
It is essential that these diagnosis’ become more accurate so that the consequences can be understood and that the markers of clinically affected individuals be identified to support appropriate diagnosis and
The controversy over prenatal genetic screening has become a major issue among today’s society. Prenatal genetic screening occurs during the first and second trimester which allows physicians to diagnose the fetus by examining blood or other tissue to detect abnormalities (Sagerdo). Due to the scientific advancements in today’s society, the idea of genetic screening has been taken to the next level in forming the idea of a “super baby”. In the United States alone, between sixty-five to seventy percent of women have serum screening in order to evaluate the status of the developing fetus (Sagerdo). Often, when a disease is detected due to a genetic test many parents opt to have an abortion.
“Personalized medicine heralds the start of an age of maintaining health as opposed to treating sickness […]” (p133). In “The Personalized Medicine Revolution: How Diagnosing and Treating Disease Are About to Change Forever,” written by Pieter Cullis, a revolution for the medical industry is on the horizon. Within the next 5-10 years clinical medicine will change strategies from treatment of disease to prevention. This strategy will be adopted using genetic and molecular personal information called the “molecular you.” The “molecular you” is determined by your sequenced genome, proteome, metabolome, and microbiome (p32).
According to the article “ Genetic Counseling as a Tool for Type2 Diabetes Prevention: a Genetic Counseling Framework for Common Polygenetic “ found in the National Society of Genetic Counselors journal , the authors state that .. The purposes of genetic Counseling are to collect the results of genetic testing with explanation a medical and family history , to present education and information for genetic disease. In addition , they believe that genetic Counseling gives many choices for patients to prevent or reduce genetic disease. The authors show that the result of genetic testing can drive the person of healthier habits . Also, the article point that the framework that a provided within the article was developed to provide genetic Counseling
I am talking about 4 out of the entire world population till date. That is how rare my Cystic Fibrosis mutation is. Yes, I have Cystic Fibrosis and a number of complications that come with it. I wake up every morning knowing the reality that there is no cure for it today. But that reality doesn't define my day.
Different ethnic groups are under different pressures and may have learnt to deal with these differently based on their social experiences. Built in policies, social inequalities and different resource available will also widen the gap between the haves and the have-nots, affecting health outcomes. Race on the other hand is often associated with genetic ancestry, and often refers to a group of people with similar physical characteristics. Both ethnicity and race can be considered social constructs as the Human Genome Project has confirmed that billions of base pairs in humans are 99.9% identical in every person. This means that individuals are only 0.1 % different from one another, but this accounts for people’s susceptibility to a particular disease.
Assessments, discussed in lecture and the article, such as the MMPI and the Rorschach have been questioned to be non-effective due to their low agreement. Said assessments can be said to take valuable time of clinicians which can be spent using and/or developing better assessment to diagnose
It was when studying the DNA molecule during AS Biology that I became fascinated with the molecular basis of life. The idea that every living organism can be broken down into a code comprised of four chemical bases intrigued me and opened my eyes to the intricacy of my own chemical make-up. As a result, I was compelled to read “Genome: The Autobiography of a Species” which gave me a new insight into the impact that genetics has on our daily lives, for example, I learned of the devastating effects of Huntington’s chorea caused by CAG repetition on chromosome 4. My desire to explore the chemical reactions behind these impacts is what attracts me to a degree in Biochemistry.