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BOOK REVIEW
Year : 2012  |  Volume : 136  |  Issue : 1  |  Page : 103-104

The busy physician's guide to genetics, genomics and personalized medicine


Diagnostics Division, Centre for DNA Fingerprinting & Diagnostics, 4-1-714, Tuljaguda Complex, Mozamzahi Road, Nampally, Hyderabad 500 001, India

Date of Web Publication10-Aug-2012

Correspondence Address:
Ashwin Dalal
Diagnostics Division, Centre for DNA Fingerprinting & Diagnostics, 4-1-714, Tuljaguda Complex, Mozamzahi Road, Nampally, Hyderabad 500 001
India
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Source of Support: None, Conflict of Interest: None


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How to cite this article:
Dalal A. The busy physician's guide to genetics, genomics and personalized medicine. Indian J Med Res 2012;136:103-4

How to cite this URL:
Dalal A. The busy physician's guide to genetics, genomics and personalized medicine. Indian J Med Res [serial online] 2012 [cited 2019 Aug 21];136:103-4. Available from: http://www.ijmr.org.in/text.asp?2012/136/1/103/99593

The busy physician's guide to genetics, genomics and personalized medicine, K.M. Sweet, R.C. Michaelis, editors (Springer Verley, Heidelberg) 2011. 236 pages. Price: US$189.00

ISBN 978-94-007-1146-4

Major advances in the field of genetics and genomics have been made in the past few years which have impact in all areas of medicine. The practice of modern medicine is rapidly moving from a 'one size fits all' model to that of 'personalized medicine'. However, the pace of new discoveries in genetics and genomics has not been matched with the increase in awareness and knowledge among practicing physicians regarding their utility in patient care. This very lacuna has been addressed to in this simple yet interesting book. The authors take the reader through the foundation of genetics in the initial few chapters which deal with DNA, its structure, function and whole gamut of cellular machinery which converts the DNA code into useful proteins. The complex chemical phenomena are explained in simple terms which should make pleasurable reading for physicians not exposed to this field. Further, the authors go on to elaborate on the various modes of Mendelian inheritance in humans with special emphasis on the importance of family history.

Genetic testing refers to the analysis of human DNA in any of its forms or related products (chromosomes, RNA, proteins). Genetic testing differs from other forms of laboratory tests in medicine in many aspects. The authors have delved in detail regarding the intricacies of genetic testing and its implications for patient and his/her family. The authors have also touched upon the principle behind the Genome Wide Association Studies (GWAS) and their implications in patient care. It is commendable that the authors have not missed the opportunity to elaborate on the limited usefulness and unknown clinical utility of Direct to Consumer (DTC) testing being offered by certain laboratories based on the results of the GWAS studies. Traditional methods of genetic testing like polymerase chain reaction have been discussed along with newer technologies like microarray, next generation sequencing, etc. in a simple yet descriptive fashion.

Traditional medical practice has been based on use of the same drug in the same dose in all patients with same illness. However, recent studies have revealed that genetic differences among individuals may predispose them to certain side effects of drugs which may be safe in others. In addition, some drugs may work better in a sub group of patients whereas the same effect may not be seen in others. These issues encompassing the emerging field of pharmacogenetics and pharmacogenomics have been lucidly dealt with using examples of drugs and genes like CYP450, etc.

The genetic basis of cancer has been an enigma since a long period in history of medicine. However, the new tools based on advanced genetic knowledge are not only helping in identification of novel genes, tumour markers, etc. for cancer, but also helping in deciding the course of therapy for individual patients. The authors have intelligently used the examples of common cancers like breast, colon cancer to prove the point. Further, the authors have discussed the issues of risk prediction in familial cancers using genetic testing like BRCA1 in breast cancer, APC mutation screening in familial adenomatous polyposis, microsatellite instability in Lynch syndrome, etc.

Although recent advances in genetics and genomics have increased our understanding regarding single gene diseases to a large extent, the same has not happened with common multifactorial diseases like cardiovascular diseases, hypertension, diabetes, etc. The ultimate aim of modern genetic medicine is to identify all the genetic predisposing variants for these multifactorial disorders. This is expected to result in novel therapies based on genetic insights and aid in manipulation of environmental factors to prevent or delay the occurrence of these diseases. The authors have provided an insight into these studies using cardiovascular disease as a model system.

Overall, the book offers the reader a bird's eye view of the broad field of genetics and genomics and its application to personalized medicine. It will prove as an enjoyable reading for both practicing physicians as well as students interested to venture into the vast and interesting field of genetics and genomics.




 

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