Single Nucleotide Polymorphisms (SNPs) - - Opinions & Insights
Each Member of The Science Advisory Board who participated in this
study was invited to comment on the following question:
"Where do you see your SNP genotyping research in the continuum of
bringing personalized medicine into reality?"
The responses, which have been edited for grammar and clarity, appear
below along with each respondent's first name, scientific specialty,
job position, and geographic region.
1) Understanding effects of genetic differences on biological phenotypes and 2) better insight into what is actually important in interactions in physiological conditions.
Jan, Staff Scientist, Europe
After discovery of a novel SNP, it is important to bring affordable technology into publication that allows most medical centers (even in smaller towns) to screen for these SNPs. In the long run, sufficient data on the medical relevance of the SNP will have been gathered and a decision can be made whether it is important to include that specific SNP in an array that may be made available to interested patients. At no point should the decision about the testing of such SNPs be determined by insurance companies or be a requirement for receiving heath insurance coverage.
Eva, Staff Scientist, North America
Although I am not directly involved in human genotyping, any advances in this area could aid to improve SNP genotyping techniques and consequently easily identify polymorphisms to personalize medicine.
Georgina, Principal Investigator, North America
Any data or research involved becomes a critical piece in the pathway of making personalized medicine a reality. It will take a multitude of researchers combined with a vast compilation of data to make drugs tailored to the individual a reality. Each researcher does his/her part to bring us there.
Vincent, Staff Scientist, North America
As an essential tool in drug discovery.
Anthony, Lab Director/Supervisor/Coordinator, North America
As an forensic expert I do not have any impact on clinical studies.
Frank, Principal Investigator, Europe
As pharmacogenomics becomes more widely accepted by the medical community, SNP genotyping in a clinical diagnostic setting will increase.
Cindy, Post Doctoral Fellow, North America
Besides potential identification of new targets for drug action, variants of a specific gene may explain differential response to specific treatment for a disease. Genetics of multifactirial diseases and pharmacogenomics.
Luminita, Post Doctoral Fellow, North America
Best diagnostic methods for certain diseases and personalized drug treatments.
Veronica, Graduate Student/Research Assistant, North America
Better medicines, more effectives drugs.
Julienette, Staff Scientist, North America
Cloning of resistance genes will allow faster employment of genotyping to plant breeding.
Dragan, Post Doctoral Fellow, Europe
Development of a screening chip to enhance risk prediction for a certain disease.
Stefan, Principal Investigator, Europe
Development of better disease risk assessment for exposed individuals.
Elizabeth, Professor/Teacher, North America
Diagnostics.
Ana, Lab Director/Supervisor/Coordinator, North America
Disease prevention and treatment. Selecting drug responder for the most expensive drugs only.
Lawrence, Principal Investigator, North America
Ease of analysis. Lowered cost for small-scale analysis. Currently, the entire technology is geared to analyze the whole genome without detail to specific disorders, sex and ethnicity. This is a big lacuna that needs to be addressed. It is imperative that it be easy to analyze simple population samples at a lower cost. This would be one of the most important ways in which clinicians and small labs can study a disorder and eventually add to the information database as well as contribute to popularization of the methodology.
Vivek, Post Doctoral Fellow, North America
Enabling better treatment attacks for the individual.
Jason, Graduate Student/Research Assistant, North America
Far far future. Too many ethical problems to overcome.
Alex, Principal Investigator, Europe
Feasible and will become true in 5 to 10 years time.
Sok Kean, Staff Scientist, North America
Functional SNPs that can be profiled against a particular disease could be used to personalize different medicines to different genotypes.
Alex, Staff Scientist, North America
Further development of genotyping for CYP450 enzymes
Velizar, Staff Scientist, North America
Hopefully aid to identifying the genetic basis of the disease we are studying.
Alice, Post Doctoral Fellow, Europe
Hopefully to contribute to the development of new and effective drugs for diseases that are currently devastating the world health and economy.
Theo, Staff Scientist, Africa
I am primarily a statistical geneticist, and among the biggest issues is communication among scientists as per interpretation of results and integration of results into public databases.
Carl, Professor/Teacher, North America
I expect it for cancer and neurodegenerative diseases.
Thorsten, Post Doctoral Fellow, Europe
I feel that it will help in better and safer medication solutions.
Elizabeth, Laboratory Technician, North America
I just published a landmark study on age-related Macular degeneration in Science, which indicates that there is a great future for SNP genotyping in bringing personalized medicine into reality.
Shrikant, Lab Director/Supervisor/Coordinator, North America
I study a rare cancer-predisposition disease. Some SNPs are associated with more severe diseases, while others are associated with less severe diseases. Currently we do not know about all the SNPs and why some indicate a worse disease outcome and some better. We hope to be able to use this SNP identification to someday (hopefully soon) predict disease course that could indicate how aggressively to treat the disease.
Sarah, Post Doctoral Fellow, North America
Identification of genes involved with specific diseases and understanding their interactions with each other and with other factors which will ultimately lead to personalized medicine.
S.E., Professor/Teacher, North America
If our work of identifying susceptibility gene(s) or variant(s) succeeds, we will get the personalized medicine work.
Chun-Liang, Principal Investigator, North America
I'm afraid we don't do medicine, we characterize and catalog genetic variation as a means to understand evolution and selection, and to develop improved crops faster and more efficiently for a diverse range of agricultural conditions. Maybe if people can eat better, they won't need as much medicine.
Jim, Lab Director/Supervisor/Coordinator, North America
In the work the I do, it is mostly retrospective analysis of pharmaceuticals. I do, however, foresee being able to specially target individuals, particularly in those whose present with multiple pathologies.
Elizabeth, Principal Investigator, North America
Increasing our understanding of the extent of genetic variation underlying disease susceptibility.
Jeremy, Professor/Teacher, North America
Individualized medicine will be the future. We are developing methods of high throughput blood group genotype definition to replace serology. We are also involved in the development of novel strategies for non-invasive prenatal diagnosis.
Neil, Principal Investigator, Europe
It has GREAT potential in biomedical research. I do see its potential boom in another 2-3 years.
Aparup, Professor/Teacher, Asia
It is a very powerful technology for identifying the newer drug targets for various human diseases.
Subhash, Post Doctoral Fellow, North America
It is interesting in order to better know gene structure, sequence and mechanism of action, and to develop personalized treatments for patients.
Milagro, Principal Investigator, Europe
It is very likely to happen in the near future.
Yaw-Ching, Lab Director/Supervisor/Coordinator, North America
It would know more specific gene about some specific disease in a specific patient.
Yun, Lab Director/Supervisor/Coordinator, North America
It's part of the discovery process, being at a core facility.
Sheila, Lab Director/Supervisor/Coordinator, North America
Mainly for monogenic diseases and not likely to expand to pharmacogenomics, though we have been thinking about these.
Shailesh, Principal Investigator, North America
Not currently feasible for common complex diseases.
Fernando, Principal Investigator, Europe
Not in the near future, but itŐs possible in the next decade.
Hakan, Professor/Teacher, Europe
One shoe does not fit all; recent highlights on personal medicine are not just a science fiction at all. SNP is one of the tools to make a bridge between personal medicine and scientific rationales.
Cheng, Department Head, North America
Our research focuses on understanding the patient's risk of severe sepsis and nonsurvival as predicted by functional SNP polymorphisms in inflammatory response genes. To improve the outcome of patients with sepsis we need a better understanding of who will become septic and how they will respond to treatments for sepsis.
Barbara, Principal Investigator, North America
Our SNP genotyping is done on the mouse models for human disease.
Zuzanna, Staff Scientist, Europe
Personalized medicine and the use of stem cell therapeutics.
Austin, Principal Investigator, North America
Pharmacogenetics and diagnostic SNP array.
Qing-Rong, Staff Scientist, North America
Pharmacogenetics and genetic diseases.
Jamie, Principal Investigator, North America
Pharmacogenetics moving into the clinic and integration of risk markers with clinical chemistry and clinical medicine.
Peter, Department Head, Australasia/Pacific
Possible use in diagnosis.
Heike, Graduate Student/Research Assistant, Europe
Preventative treatment. I think it will certainly join the standard panel of genetic tests currently conducted, e.g., in neonatal care. Wider acceptance, particular by insurance, will lead to wide adoption. The forensic use of SNP profiling will as expand as Judges become more familiar with the technology.
Douglas, Post Doctoral Fellow, North America
Rational chemoprevention and drug use.
Juergen, Principal Investigator, North America
Right now, I'm not so sure anyone really knows how to interpret SNP data - we are generating huge amounts of data, and rather a smaller amount of actual knowledge. I know that this is the same situation as faced by the expression microarray profiling field, but that has also been slower to reach the clinic than we would have maybe predicted.
Sarah, Post Doctoral Fellow, Europe
Since our group is in India, we are realizing the importance of personalized medicine a little later than the Western world; however, India is opening up and we are doing our best to make it a reality.
Rasmi, Graduate Student/Research Assistant, Asia
SNP genotyping research, particularly epigenetics, has the potential for not only evaluating individual (not just population) disease risk, but also the power to predict responsiveness to therapeutics, and in the case of epigenetic changes, has value for monitoring of individual patients' treatment responses and the customization of personalized medical treatment plans. Epigenetics may lead to far more accurate assessment of patient prognosis, as well as the design of more effective therapeutics to target particular regulatory gene networks.
Karen, Principal Investigator, North America
SNPs for individualized cancer therapy due to their detection in DNA detoxification genes (important for chemotherapy) and repair genes (important for chemo- and radiotherapy or radiochemotherapy).
Patricia, Professor/Teacher, Europe
Standard service to a medical facility.
Emil, Professor/Teacher, Europe
Support testing for hospitals and find new SNP-disease association.
Virginie, Post Doctoral Fellow, North America
Tailored treatments with increased efficacies for multiple diseases becoming available more rapidly.
Melisa, Post Doctoral Fellow, Europe
The inability to link SNPs to gene function is a hindrance to linking genes to the disease phenotype. Once a SNP has linked a gene to a disease finding out how the SNP relates to a change in the function of the gene can be frustrating. Until it can be shown that the identified gene is really associated with the disease phenotype, it will be difficult to utilize SNP genotyping for personalized medicine.
John, Principal Investigator, North America
To explain gene vulnerability to drug addiction.
Patrizia, Professor/Teacher, Europe
To find out the genetic characteristic of a disease, for example, that affect the metabolism of a drug.
Kin Wah, Post Doctoral Fellow, North America
To yet again help geneticists in having more efficient methods for generating and mapping mutants. The better we can get these machines to be almost perfect the better we can minimize the disputes in regards to the validity of DNA fingerprints for example...as forensic evidence.
Angele, Graduate Student/Research Assistant, North America
Try to find whether we could have mutant genes react in the same biopathway.
Xiao-Lu, Staff Scientist, North America
Use of in-house analysis software.
Scott, Principal Investigator, North America
We are bringing new light into the area and hopefully will follow through with something that can help in the future.
Greg, Staff Scientist, North America
We are in the process of a number of studies. Early work in this area has failed to explain enough cases to satisfy FDA and other requirements. So finding the missing puzzle is an area we are very much working on. Why do some SNPs only explain 80% of non-response for a drug? What is going on with the other 20%? Until that gap is filled, personalized medicine will stay a long way off, even though this rate is better than the efficacy for many drugs.
Matt, Staff Scientist, North America
We are looking at mutations in a gene that may be related to metastasis. These changes, though rare, may have some significance in patient treatment.
Peter, Principal Investigator, North America
We have to identify and validate SNPs which could be useful to test first. Most of them would probably form a network of relations and to understand these interdependencies will be the most difficult problem to disclose.
Radim, Lab Director/Supervisor/Coordinator, Europe
We hope to be able to identify women whose HPV infection is at increased risk of developing into cervical cancer.
Keith, Staff Scientist, Europe
We just applied for a translational grant. Some personalization of medicine has already happened - I believe the combination of genetic testing together with clinical, social, environmental factors will help predict the best treatment for depression in less than 10 years.
Margit, Principal Investigator, North America
We study many of the xenobiotic metabolizing genes. Much of the population frequency data is currently collected on DNA specimens that just happen to be in the freezers of researchers rather than via well thought out projects representing a balanced ethnic diversity. We hope our contributions to the field can change this a little bit.
David, Lab Director/Supervisor/Coordinator, North America
We try to discover genotypes related to disease predisposition that could be translated into screening babies at birth for disease predisposition.
Towia, Principal Investigator, North America
Working directly with doctors to treat leukemia patients.
Jeff, Department Head, North America
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