- Introduction
- How it can help you?
- How is it done?
- Commercially Available Personalized Genomics Services
- Legal and Ethical aspects
- Pitfalls and limitations
What is Personalized Genomics?
Personalized genomics is a field of science that has the potential to offer the ability to prevent rather than to treat, to take anticipatory actions instead of reaction, and to simply improve the overall quality of life.
Organisms do not pass on copies of themselves but the information needed to create new organisms in the form of genes that are inherited from both the parents. These two set of genes represent the two genetic blueprints required to make a new genotype. A genotype is a combination of maternal and paternal alleles for a particular locus or a chromosomal segment and this unique sequence of nucleotides in your chromosomes constitutes what is called as Personal Genome. The sequence of DNA nucleotides in individual human chromosomes is very similar to that of any other human. However, despite this similarity, there are small but significant inter-community, inter-familial and inter-individual genetic differences within the members of the same species. These genetic variations account for various physical and clinical differences like appearance or tolerance against a certain disease.
The DNA sequence produced by the Human Genome Project in 2003 has cataloged all human genes, but it hasn’t told us what each gene does! Moreover, it was drawn from a number of genomic sequences obtained from multiple samples. Personalized genomics is sequencing an individual’s genome so that individual specific genetic differences can be identified and analyzed for their patho-physiological significance. In years to come, it is expected that personalized genomics will individualize healthcare and change the medical epitome from “Diagnose and Treat” to “Predict and Prevent.”
How personalized genomics can help you?
Identifying the particular combination of genetic variants in an individual’s DNA by decoding his/her genome sequence allows scientists to explore the relationship between the inherited set of genetic variants and his or her biological traits. With personalized genomics, it is possible to predict genetic susceptibility to certain diseases and attempt to prevent illness and personalize the treatment thereafter. In that sense, the effects of a genetically predisposed disease can be minimized by appropriate lifestyle or dietary modifications.
Various companies that offer personalized genomic services test for the genes associated with a range of diseases like Alzheimer’s, prostate cancer, type II diabetes etc. that are influenced or caused by certain genetic or allelic variations. The most beneficial part of this new technology is the ability for a person to understand what diseases he or she “may” be predisposed genetically to. Personalized genomics information allows the test subject to understand his or her risk level in comparison to an average risk shared by any given population.
With the personalized genomic information, physicians could advise patients to make dietary and other lifestyle changes based on their genetic code in order to prevent or postpone such debilitating or fatal diseases. For instance, if a person has been found to be susceptible to any of the neurodegeneratory disorders, he may be suggested to spend more time in activities that help in stirring up the grey matter like reading story books, solving puzzles etc. along with appropriate clinical intervention. With appropriate and timely intercession, one can delay the effects of some of the genetically predisposed disorders.
There may not be any definitive cure at present for a disease you are found to be predisposed to but steps can certainly be taken to delay the manifestation of symptoms. For example in case of Alzheimer’s, a form of late-onset dementia, there is no definitive cure at present. Nevertheless, there are drugs available in the market that can delay the onset of symptoms associated with Alzheimer’s. This may prove beneficial not only to the test subject, but also to the family members in preparing for what can be a very difficult phase otherwise.
How is it done?
A few drops of saliva or any type of tissue sample for that matter, a stamped envelope and a heavy pocket, at least for now, is all it takes to get a personalized genome and an attached predictive predisposition report for almost everything – from bladder cancer and baldness to memory loss and what not! Advancements in various high-throughput sequencing technologies are bringing the power of personalized genomics within the reach of every tom, dick and harry with every passing day!
Taking advantage of ultra-high throughput SNP genotyping and sequencing technologies, upon sequencing and subsequent DNA analysis, the information is loaded into the secure databases from where it can be accessed and viewed by the customer. While precise instrumentation and technology varies with each company, most of these technologies are quite faster than the sequencing methods used by the Human Genome Project. However, most of these technologies lack the accuracy of conventional sequencing and a significant iota of research is dedicated to make them exponentially faster, cheaper, and more accurate!
Commercially Available Personalized Genomics Services:
Quite a significant number of companies are offering personalized genomics services nowadays. Some of the major commercial players in this field include, but are not limited to:

deCODEme: It was founded in 1996 in Iceland with a goal to identify human genes associated with common genetic disorders using various epidemiological studies. They look at around 42 conditions and also offer screening for genetic susceptibility to certain specific types of cancer and cardiovascular health risks. As far as price is concerned, expect your pockets to be around a thousand dollar lighter in lieu of complete deCODEme services which often take around two to three weeks to let you see much awaited strings of your ATGC’s. Of course, an ancestry map and a comparative predictive analysis on about thirty diseases are also on the charts. They have recently introduced an introductory price of USD 195 for a cardio scan and USD 225 for a cancer scan that analyses susceptibility to 7 types of cancers.
23andme: It is a California based company that looks at around 580,000 single nucleotide polymorphisms that may have established or incomplete-associations with various physiological functions that may or may not have clinical significance. They have recently offered a research edition pack for USD 99 that does analysis for 116 diseases & traits but that doesn’t tell you about carrier status, response to certain drugs or to browse or download your raw data. This is covered in the full edition that costs 399 bucks. It takes around six more weeks to let you see your results. They also have a haplotype service for ancestry analysis not to mention the policy of adherence to ELSI guidelines that address ethical and privacy issues associated with genomic data.
Navigenics: It is also a California based company offering personalized genome sequencing. Just 3 years young, it offers analysis of genetic predispositions for a variety of health conditions, a customized test for each genetic marker associated with the select health conditions and a 24X7 access to certified genetic counselors to help explain what your genetic test results mean and support you in knowing how to take next steps. They don’t seem to offer much in terms of knowing ancestral background. They have recently reduced the cost of their health compass test to a thousand dollars for one year support.
Bioresolve: It is a not-so-known company based out of Canada offering genetic predisposition analysis for over 174 diseases, conditions and traits including aging for just around 300 bucks! They also offer this not-too-serious “life expectancy” analysis on their website not to mention the introductory site-pal that talks to you!
Legal and ethical aspects associated with personalized genomics:
Genomic information is exceptionally personal, and therefore worthy of protection, yet we, both individually and as a society, get more out of it when that information is publicly available. However, questions about safety and ethical use of this information remain. The very advent of human genomic data had been marked with ethical concerns and privacy issues which still remain strong even today. With large commercial interests vested, more and more genomic data is being patented and stored in closed databases. With legal strings of patents and copyrights attached to tidbits of DNA sequence information, cramped availability of this valuable data within the larger medical research community remains a serious concern.
Then probable professional bias is again one of the major common concerns. For instance, insurance companies might decide to refuse covering individuals with blah-blah mutation in so-and-so gene that might call for frequent hospitalization in near future! Even the recession crippled banks may decide to refuse loans if they find something fishy in the applicant’s genes!
Another question is does an individual really want to know everything about what genome could tell him or her? Is there really any benefit in knowing that one is 15% more likely to develop a scary unpronounceable disease? Might the worry about that possibility be almost as damaging to your quality of life as the disease itself!! According to a report in the prestigious Science magazine in 2008, for this very reason, the Australian government is considering banning these direct-to-consumer products due to concerns about the interpretation of test results, particularly for serious genetic conditions!
Pitfalls / Limitations of Personalized genomics:
Just because we have identified a gene sequence doesn’t mean its function or its impact has been thoroughly understood or that having a gene has any real predictive value. Many diseases are multi-factorial and the result of a complex interplay of many different genes that we’re just beginning to understand. Personalized genomics data will only make sense when implanted in a larger data framework that includes medical history and lifestyle data like dietary habits, work schedule, physical activity and exposure to various environmental variables. Moreover, the understanding of most genes remains a work in progress—and, as a result, users could make life decisions based on incomplete or pseudo science.
On a different note, as more and more commercial players are jumping in this field, genomic data is unlikely to be free of commercial and legal strings making it difficult for people to interpret this information on their own. And there is fear that people with uncertain genomes could be discriminated against by employers, insurers and banks.
Currently, there is little evaluation and regulation at the federal level for accuracy, reliability, and utility of genetic tests which are being offered directly to the consumer. Further, the issue of preparing healthcare professionals for the new genetics and the public to make informed choices remains unaddressed as of now.
All these things need to be discussed and sorted out through international consortiums involving all public and private, commercial and non-commercial groups that are likely to be influenced and a consensus must be reached before vending out genomic data like ice-cones!





