Biology: Mutation and Article Essay

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Summary (Molecular Genetics) Personalized Medicine Tailored To Each Patient

Personalized health care will become a bigger topic in the next couple years, which means that in upcoming years there will be more talk on customized medicine. Customized medicine will be medicine that suits a patient. This means that this will help patients with early diagnosis, and treatment related to their own profile and their genetics. The article shares that researched have wanted to identify genes and be able to add gene identification into treatment.

There has been talk about this for a while, but it has been slow. The article states that it took almost 25 years just discover drug treatment for cystic fibrosis, after the discovery of cystic fibrosis itself. Therefore this one simple example shows how long the discoveries can take. Even though it has taken so long, Pranesh Chakraborty a pediatrician and geneticist at CHEO, says that the link between genetics and treatment will soon come, as research is very close to being able to link genetics and treatments to help treat disease (as well as prevent diseases).

For the past 50 years, a pinprick test has been done to newborns. The test started off by testing for PKU, which is a metabolic condition, but after that hypothyroidism was added to the testing. Rapidly other diseases were added to the testing, such as sickle cell anemia, and cystic fibrosis. Now there are 28 diseases that newborns are tested for in the pinprick test. Along with the pinprick test, genetic tests can also help to prevent and treat diseases. A chromosomal abnormality, the Fragile X leads to mental disabilities. If there was ways to rapidly identify the fragile X it would help to create treatment plans for learning disabilities.

The article goes on by saying that in the future it may even be possible to test newborns for genes that create the chemical changes that lead to autism. By being able to identify conditions like this early, it makes it possible to help provide early treatments and care. It is also said that in the near future physicians will be able to identify what medication is good for patients, and what medication will be bad for a patient, by doing a blood or saliva test. An example if this is aminoglycoside antibiotics, which help certain patients, but can negatively affect those that are genetically-predisposed. By being able to do genetic tests, it would help to determine what patients shouldn’t take the antibiotic.

The information related to genetics is important, and it will help with treatment, but there are also a lot of ethical and economic problems associated with personalized treatments. The article finishes off by saying that even though there are ethical and economic problems, overall the genetic information would bring more benefits than problems.

Connection:

In the course we learned a lot about molecular genetics. We mentioned the gene codes, and problems related with DNA. The article talks about genes, and then importance of being able to identify genes to help identify problems associated with genetic problems. When learning about molecular genetics we learned that is composed of a double helix which is composed of two polynucleotide strands that twist around each other. The strands consist of a back bone of alternating phosphate groups and sugars. DNA undergoes replication, as well as transcription. In both it is often that errors can occur, as well as mutations. Examples of errors that occur are single-gene mutations. These types of mutations can be classified as point mutations, which result in a change in a single base pair within DNA. There can also be frame shift mutations which result in the insertion or deletion of nucleotides. Other classifications of single-gene mutations are silent mutations (do not change the amino acid sequence of the protein), missense mutations (change the amino acid sequence and are usually harmful), and nonsense mutations
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