Genome mapping with DNA

Excerpt from "Curing Cancer Relies on Genome Mapping With DNA Evidence Guiding Treatment," Bloomberg, by John Lauerman. January 23, 2012--A decade after the first draft of the human genome was published, hospitals and clinics are using DNA sequencing to generate better treatments and diagnoses for patients with rare childhood diseases, cancers and other mysterious conditions. Using new technology that can effectively print out an individual’s genome -- the instruction manual for making all the body’s cells -- doctors are examining individual components, called bases, to slow intractable cancers and treat one-of-a-kind diseases in children. “This is going to be transformative to medicine,” said John Niederhuber, former director of the U.S. National Cancer Institute from 2005-2010, and now executive vice president of the Inova Health System hospital chain in northern Virginia.

Using faster, more accurate technologies, doctors are combing through ever-wider swaths of the human genome to pinpoint and counteract the causes of disease. Cancer is among the most promising targets because it is essentially a disease in which damaged genes let cells grow without restraint, said Barrett Rollins, chief scientific officer of the Harvard University-affiliated Dana Farber Cancer Institute in Boston.

While the price of genome sequencing is falling to $1,000 and research money will sometimes pay for these procedures, they aren’t routinely covered by insurance. Some patients are paying out of pocket to have their genomes sequenced, and not all of them can be helped by the procedure because their tumors have so many genetic abnormalities. While gene sequencers around the world churn out millions of gigabytes of genetic data, most of the human genome remains unexplored and incomprehensible even to the savviest scientists, let alone practitioners caring for families. With so much unknown, sequencing doesn’t hold answers for every patient.

President of Rare Genomics Institute, and CMDA Member Jimmy Cheng-Ho Lin, MHS, PhD: "Medicine is transforming right before our eyes. Recently, both Illumina and Life Technologies announced platforms to sequence human genomes for $1,000. In addition, Oxford Nanopore revealed its USB drive-sized disposable sequencer that will cost less than $900. With these new technologies and prices, genome sequencing is quickly becoming a reality as part of the healthcare system. Already, lives of children, such as Nic Volker at the Medical College of Wisconsin and the Berry twins at Baylor College of Medicine, have been dramatically transformed or even saved through this technology. While the age of genomic medicine is upon us, the ethical implications are still to be determined.

"Because genomic information is potentially very powerful and contains one’s genetic fingerprint, careful thought must be applied to both the potential positive and negative consequences. While public sharing of this information will facilitate research and bring forth scientific advances, genetic information could be used in discriminatory or prejudiced manner if in the wrong hands. In addition, while some diseases genes can be identified more easily, the interpretation of genetic profiles is still developing as a field and many of the implications in terms of health are yet to be understood. In the midst of this complexity even among experts, it is thus an additional challenge to educate and engage the average patient to understand the consequences of this data. While the technology and equipment may change, ultimately the role of the physician modeled after the Great Physician remains the same - as advocate, educator, interpreter, servant, guide and friend."

Standards4Life information on the Human Genome Projec