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Personal Medicine - genetic testing to evaluate disease risks.

Smart Nutrition can add 10-15 years to yCalifornia-based ‘personal genetics’ company, has launched its mail-order DNA test kits in the UK today. The kits provide customers with comprehensive reports about their health, genetic traits, inherited conditions and ancestry. The Personal Genome Service starts with a testing kit that you can order online for $196 (£125). After you submit saliva samples, 23andMe’s lab analyzes them and sends back a report covering inherited conditions like Cystic Fibrosis and Sickle Cell Anaemia, response to drugs, genetic risk factors like Alzheimer’s Disease and traits like male pattern baldness, memory and more. This information can help doctors better diagnose your ailments and ensure better medical care by avoiding drugs that you’ll react poorly to, or not at all. In addition, 23andMe’s service may also help customers trace their lineage.

In Collaboration with VIPcheck-up, we propose cutting-edge Health DNA tests, notably towards weight loss and anti-aging. 

Personal genomics is the branch of genomics concerned with the sequencing and analysis of the genome of an individual. The genotyping stage employs different techniques, including single-nucleotide polymorphism (SNP) analysis chips (typically 0.02% of the genome), or partial or full genome sequencing. Once the genotypes are known, the individual's genotype can be compared with the published literature to determine likelihood of trait expression and disease risk. Automated sequencers have increased the speed and reduced the cost of sequencing, making it possible to offer genetic testing to consumers. 

Use of personal genomics in predictive and precision medicine

Predictive medicine is the use of the information produced by personal genomics techniques when deciding what medical treatments are appropriate for a particular individual. Precision medicine is focused on "a new taxonomy of human disease based on molecular biology".

Examples of the use of predictive and precision medicine include inherited medical genomics, cancer genomics and pharmacogenomics. In pharmacogenomics genetic information can be used to select the most appropriate drug to prescribe to a patient. The drug should be chosen to maximize the probability of obtaining the desired result in the patient and minimize the probability that the patient will experience side effects. Genetic information may allow physicians to tailor therapy to a given patient, in order to increase drug efficacy and minimize side effects. As of Oct 2012 there are 167 examples of drug gene pairs for which this information is currently useful in clinical practice and this number has been growing rapidly.

Disease risk may be calculated based on genetic markers and genome-wide association studies for common medical conditions, which are multifactorial and include environmental components in the assessment. Diseases which are individually rare (less than one in 200,000 people affected) are nevertheless collectively common (affecting roughly 8-10% of the US population. Over 2500 of these diseases (including a few more common ones) have predictive genetics of sufficiently high clinical impact that they are recommended as medical genetic tests available for single genes (and in whole genome sequencing) and growing at about 200 new genetic diseases per year.

Cost of sequencing an individual's genome

The cost of sequencing a human genome is dropping rapidly, due to the continual development of new, faster, cheaper DNA sequencing technologies such as "next generation DNA sequencing".

The National Human Genome Research Institute, part of the U.S. National Institutes of Health, has set a target to be able to sequence a human-sized genome for US$100,000 by 2009 and US$1,000 by 2014. There are 6 billion base pairs in the diploid human genome. Statistical analysis reveals that a coverage of approximately ten times is required to get coverage of both alleles in 90% human genome from 25 base-pair reads with shotgun sequencing.This means a total of 60 billion base pairs that must be sequenced. An Applied Biosystems SOLiD, Illumina or Helicos sequencing machine can sequence 2 to 10 billion base pairs in each $8,000 to $18,000 run. The purchase cost, personnel costs and data processing costs must also be taken into account. Sequencing a human genome cost approximately $300,000 in 2008. In 2009, Complete Genomics of Mountain View announced that it would provide full genome sequencing for $5,000, from June 2009. This will only be available to institutions, not individuals. Given the ethical concerns about presymptomatic genetic testing of minors, it is likely that personal genomics ill first be applied to adults who can provide consent to undergo such testing. In June 2009, Illumina announced the launch of its own Personal Full Genome Sequencing Service at a depth of 30X for $48,000 per genome. Only one year later, in 2010, they cut the price 60% to $19,500. Prices are expected to drop further over the next few years through economies of scale and increased competition. Knome's whole genome sequencing approach aims, instead, to read every site in the whole euchromatic portion of a person's genome (roughly 3 billion sites). While significantly more expensive than SNP chip-based genotyping, this approach yields significantly more data, identifying both novel (never-before-seen) and known sequence variants, some of which may be particularly relevant in efforts to understand personal health, as well as ancestry.

Comparative genomics

Comparative genomics analysis characterizes the differences and similarities between whole genomes. It may be applied to both genomes from individuals from different species or individuals from the same species, generally at lower cost than sequencing from scratch.

Other issues

Full sequencing of the genome can identify polymorphisms that are so rare that no conclusions may be drawn about their impact, creating uncertainty in the analysis of individual genomes, particularly in the context of clinical care. Czech medical geneticist Eva Machácková writes: "In some cases it is difficult to distinguish if the detected sequence variant is a causal mutation or a neutral (polymorphic) variation without any effect on phenotype. The interpretation of rare sequence variants of unknown significance detected in disease-causing genes becomes an increasingly important problem."

There is a heavy debate as to how relevant the results of personal genome kits are and whether or not the ramifications of knowing one’s predisposition to a disease is worth the potential psychological stress. There are also three potential problems associated with the validity of personal genome kits. The first issue is the test’s validity. Handling errors of the sample increases the likelihood for errors which could affect the test results and interpretation. The second affects the clinical validity, which could affect the test’s ability to detect or predict associated disorders. The third problem is the clinical utility of personal genome kits and associated risks, and the benefits of introducing them into clinical practices.

Doctors are currently conducting tests for which some are not correctly trained to interpret the results. Many are unaware of how SNPs respond to one another. This results in presenting the client with potentially misleading and worrisome results which could strain the already overloaded health care system. This may antagonize the individual to make uneducated decisions such as unhealthy lifestyle choices and family planning modifications. Moreover, negative results which may potentially be inaccurate, theoretically decrease the quality of life and mental health of the individual (such as increased depression and extensive anxiety). There is also controversy regarding the concerns with companies testing individual DNA. There are issues such as "leaking" information, the right to privacy and what responsibility the company has to ensure this does not happen. Regulation rules are not clearly laid out. What is still not determined is who legally owns the genome information: the company or the individual whose genome has been read. There have been published examples of personal genome information being exploited. Additional privacy concerns, related to, e.g., genetic discrimination, loss of anonymity, and psychological impacts, have been increasingly pointed out by the academic community as well as government agencies.

Conversely, sequencing one’s genome would allow for more personalized medical treatments using pharmacogenomics; the use of genetic information to select appropriate drugs. Treatments can be catered to the individual and the certain genetic predispositions they may have (such as personalized chemotherapy).
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