Essay On Genome Sequencing

The discovery of free fetal DNA circulating in maternal blood during pregnancy revolutionized noninvasive prenatal diagnosis. Advancements in prenatal diagnosis in the past decade have enabled clinicians to accurately diagnose genetic abnormalities in the fetus earlier and without risk of miscarriage as is associated with amniocentesis and chorionic villus sampling. Sequencing and analysis of the fetal genome has not only improved prenatal diagnosis of chromosomal aneuploidies, but also subchromosomal aberrations and monogenic disorders. This lends parents earlier and more specific information that may guide their decisions during pregnancy to benefit

In the article, “Sequencing the Unborn”, by Kai Kupferschmidt discusses a new procedure that could change the way how genetic diseases are found in fetuses. Currently doctors are able to extract some fluid in the womb or placenta, has a one percent probability that it could cause a miscarriage. However a chemical pathologist, Dennis Lo discovered that there is enough of the fetuses DNA in the mothers. Instead using the previous method mentioned, parents and doctors could instead use the ten percent of fetus DNA that is in the mothers' blood. This can still be quite tricky, Lo stated when knowing the parent's haplotypes, it is possible to figure out the fetuses genome.

The implementation of HIPAA, specifically the final rule, known as the Standards for Privacy of Individually Identifiable Information: 45 cfr parts 160 and 164, was intended to “assure that individuals’ health information is properly protected while allowing the flow of health information needed to provide and promote high quality health care and to protect the public 's health and well-being. “(Secretary, H. O. n.d.). Researchers complied with the HIPAA ruling by implementing collection of waivers, consent forms, and surveys, which required approval by an Institutional Review Board (IRB) before data could be used. It appears that for the most part, with proper documentation and proper review and authorization of the documentation, HIPAA has not hindered researchers in their data collection from patients. However, there are those who believed that the implementation of HIPAA had negative repercussions in regards to data collection in regards to health research.

According to Harmon (2007), “the public is unprepared for such information and that it is irresponsible to provide it without an expert to help put it in context” (p. 1). Unlike Harmon who actually had her DNA sequenced, I do not plan on obtaining a DNA profile. I understand that if will inform me that I may be prone to some genetic diseases, Alzheimer’s, prostrate cancer, Type 2 diabetes, along with Crohn’s disease. Harmon states “DNA is not definitive” (Harmon, 2007, p. 1).

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

Tarini BA, Goldenberg A, Singer D, Clark SJ, Butchart A, Davis MM. Not without my permission: parents’ willingness to permit use of newborn screening samples for research. Public Health Genomics. 2010;13(3):125-130.

Genetic information can be identified at any point throughout a person’s lifespan from pre-conception until after death. In addition to heritable, biological information, family history, genetic test results, and medical records are also sources of genetic information” (Jenkins & Lea, 2005). We are put in a position to gather and retain information that could be utilized for a better future, but is confidentiality involved for the sake of profiting? Ask yourself, who should have access to genetic information? Who owns and controls it? How can families resolve conflicts when some members want to be tested for a genetic disorder and others do not?

Newborn genome screening is an issue that will becoming increasingly important in the coming decades. It has the potential to bring about many early diagnoses which could have a large impact on healthcare. This will only occur though if states can uniformly adopt a standard set of tests to be screened for. Equally important is the subject of uniformed consent. When we apply these variables to the 6 steps process we can fully compare the benefits and risks. This gives insight into taking the most appropriate actions in the future.

New born screenings have been implemented since the 1960s. More 44 states advocate for 21 of 29 screenings and yearly newborns go through screenings for genetic defects. The intention of new born screenings is to identify genetic conditions before traits occur for early treatment. For instance, PKU screenings pinpoint infants therefore a calculation of diet is given to prevent mental retardation. Unfortunately, not all conditions are treated the same with the use of dietary measures, it even goes as far as medical procedures. Diagnosed defects include developmental delays, neurological defects and increase in morality. Even more some are left without treatment being of its rare condition and become therefore become a patient in waiting. In

The article relates to lifespan and the weekly readings because DNA, 23 pairs of chromosomes, and genomes are what we’re created from. From time of conception and during our development these factors determine if we are male or female by X and Y chromosomes, genes determine our hair and eye color and our predisposed risk of mutations mentally or physically. With all the testing during pregnancy such as amniocenteses, maternal blood screening, and ultrasounds we can now see some of these mutations prior to giving birth. The article reveals that at one time it cost millions of dollars as opposed to now or soon it will be a couple thousand to map our past and gain the knowledge of what diseases we are predisposed to such as sickle cell anemia, or certain types of cancer. They have been able to

It was the summer of 2009 when everything changed. In that moment I didn't know she would never be the same. I remember the first time I noticed something was wrong she was laying in her bed talking to herself. A few days later a doctor diagnosed her with schizophrenia. The doctor told me "my identical twin would NEVER be who I remembered her to be". For the most, I believed her, but I still wanted to see if I could help. After researching for months ,I stumbled across an article on genome editing. It is a type of genetic engineering in which DNA is altered in the genome of an organism using engineered nucleases. It has the potential to cure diseases and revoltionize the treatment of others. It has already saved a little girl dying from leukemia.

Medical professionals adhere to the Hippocratic oath which promotes doing no harm to patients and acting in the best interests of patients. Mandatory genome sequencing would give rise to ethical dilemmas such as what to do with incidental clinical findings, as disclosing these may generate concern to healthy individuals. If the GP finds a variant with possible life altering consequences for the patient, do they have a right to pass this information on to the patient? These concerns may lead to invasive follow-up tests such as X-rays or computed tomography (CT) scans, which could be as damaging to patient’s health with respect to radioactive dosage and also raises questions about who pays for these services (7).

While ultimately a very personal choice, there are important scientific and societal considerations as to whether individuals should have their genomes sequenced or not. Those who are against genome sequencing are concerned that the state of genetics research provides more information that we know what to do with it, yielding an excess of information that is useless, not interpretable, and potentially harmful to the individual. If individuals can’t prevent or delay most diseases, why spend money to create years of worry? This concern could, however, be eliminated if there were more individuals willing to have their genomes sequenced, not only to see whether they benefit from genomic medicine, but also to provide a more complete understanding of genomic differences and their relation to increased risks for certain diseases. Others are concerned that the costs and strains put on the healthcare system by millions of otherwise healthy people who, as a result of sequencing, demand additional tests and

There has being a reduction of cost of genome sequencing in the last couple of years, however some ethical and social problems of genome sequencing are the privacy of the patient and discrimination risks. With the current evolvement of technology, keeping information safe is hard therefore there are risk of information becoming public which may affect charges for health or life insurance and stigmatization. Also, with genome sequencing there are secondary (random) findings which may cause more apprehension or concern for the patient. With these findings, medical professionals are faced with the decision if they should inform the patient or not.

This technique is still very useful overall because of its low error range, and also is the reason why it is still considerate as the Gold standard for DNA sequencing, among other things to validate NGS data (Pareek & Smoczynski 2011).