Current+Research

__Current Research __
Like any disease, genomic research is a great tool to understand the genetics behind the disease as well as what kind of treatment can help patients with cystic fibrosis. A lot of the current ongoing research on cystic fibrosis relates to genomics either by doing sampling methods with genomic tests to see how personal genomic medicine could play a role in treatment or by using new future technology to better understand this disease or even find a cure.

Genetic testing for cystic fibrosis is usually performed using laborious molecular tools that use Sanger sequencing to locate mutations in the CFTR gene. It has been found that in CFTR gene there is high allelic heterogeneity, having more than 1900 sequence variants reported. However, there is one predominant mutation that accounts for about 70% of all CF alleles globally. When it comes to testing for CF, only 23 variants for population based CF carrier screening are tested for, leaving the majority untested, (Trujillano, //et al.,// 2015).

Although, DNA Sanger sequencing has been used for testing this gene, next-generation sequencing technologies have been introduced and trialed in this clinical practice. This new technology allowed researchers to identify genetic alterations in the CFTR gene, which included single nucleotide variants (SNV), insertions and deletions (InDels) and structural variants (SV). This sequencing process also led to the discovery of a seven exon spanning deletion and other challenging variants within this gene, (Tayoun, //et al.,// 2013).

A lot of research using future technology is leading scientists further to a possible cure for cystic fibrosis. These technologies include CRISPR and stem cells correction research. CRISPR/Cas9 is a genome editing system that seeks correction of harmful or undesired mutations in genes. In a study performed at the University Medical Center Utrecht in The Netherlands used CRISPR/Cas9 system to correct the CFTR locus using homologous recombination in previously culture intestinal stem cells of known CF patients. This corrected allele’s function was measured to be fully expressed and functional in clonally expanded organoids. Studies such as this provide great evidence of gene correction utilizing adult stem cells. It is important to understand that this type of technology does not cure cystic fibrosis, but rather provides a very initial start in understanding gene editing in very basis systems. Technology as powerful as this would require many years of research and trialing in order to be fully functional in a human model. Many similar studies have been developed using this same combination of CRISPR/cas9 and stem cell research. This technology is the future and is the possible solution for the unimaginable, (Schwank, //et al.,// 2015).

__Personal Genomic Options __
Most people that have cystic fibrosis will discover they have the disease very early in life. In fact, newborn screening tests for symptoms of cystic fibrosis with a simple sweat test. However, there are various genetic tests that are available to determine if you have the disease or if you are a carrier. Some tests can even tell you what exact mutation you have that is causing your cystic fibrosis or whether you have one copy of a defected CFTR gene. The most common genetic carrier test available as of now is 23andme. They test for 28 of the many variants in the CFTR gene. This type of test is very informative to the user and their partner when it comes to the consideration of having children. This site can also give statistic data of the rates of people in different ethnic groups that have this disease as well as have many are reported carriers, ("23andme").

There are many other genetic tests that can be done to determine what mutation(s) in the CFTR gene a cystic fibrosis patient has as well as if a person is a carrier. Some of these tests will typically need to be prescribed by a physician. Some of of the many companies that do these tests include: Pathway Genomics, Genomic Health, and Positive Bioscience. Whole genome testing is also available but would be an extreme test if you are interested in mutations in just one gene. Whole genome testing would allow one to get their entire genome sequenced and have it analyzed by a specialist in most cases. Again, this would allow you to determine what mutation a cystic fibrosis patient has as well as if someone is a carrier or not. There are many companies that have this type of service, some include: Illumina, Counsyl, and Omica. carrier of cystic fibrosis.

 **Fi****gure 3.** <span style="font-family: 'Times New Roman',Times,serif;">Inheritance pattern with both parents being a carrier. <span style="font-family: 'Times New Roman',Times,serif;">(Permission for use of this photo granted from the GeneticScience Learning Center <span style="font-family: 'Times New Roman',Times,serif;">[| http://learn.genetics.utah.edu]).

__<span style="font-family: 'Times New Roman',Times,serif;">Broader Impacts __
<span style="font-family: Times New Roman,Times,serif;">There is always the possibility of ethics coming in the way of certain genetic tests. Genetic testing is definitely not for everyone due to it being such a powerful, informative tool. Some people may believe that finding out if you are a carrier for cystic fibrosis is unethical because it could interfere with the decision of having children. These people believe that in a way, you would be altering with nature by trying to create a "perfect child".

<span style="font-family: Times New Roman,Times,serif;">Genetic testing is relatively new and is definitely something that scares a lot of people due to them having little knowledge about it. However, there are many positive impacts that genetic testing plays not only in research but in many people's lives. It is a tool that can be used to help better someones lifestyle and may even help them determine whether or not they should have children if they so happen to be a carrier of this detrimental disease.

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