Navigation Links
Human Genome Turns 10

Scientists reflect on fruits of mapping the genetic blueprint for humans

WEDNESDAY, March 31 (HealthDay News) -- A decade after the sequencing of the human genome, scientists muse on how far they've come and how far there is still to go.

Without doubt, the publication of the genome draft in 2001 permanently altered the scientific and medical landscape, although changes to individual lives are slower to come, according to scientists writing in the April 1 issue of Nature.

"It's still a fairly early stage in the transformation," said Dr. Francis Collins, director of the U.S. National Institutes of Health. "Most people's medical care has probably not been directly affected so far by things that have come along since then. Most of the revolution lies ahead in the next 10 to 20 years."

Collins was director of the National Human Genome Research Institute from 1993 until 2008.

For his piece in Nature, Collins dug up old PowerPoint slides to find predictions he had made in 2000 for 2010. Most have come true.

For instance, he was correct in anticipating that predictive genetic tests would be available for various medical conditions, along with interventions to reduce the associated risk.

Tests for the BRCA1 and BRCA2 genes, which elevate a woman's risk for breast and ovarian cancer, are now commonplace, as are assays to identify people who are at higher risk for colon cancer because they have specific gene mutations.

And once found, there are ways to minimize the genetic dangers. In the case of the BRCA genes, this may mean removing the ovaries or breasts in return for a risk reduction of almost 100 percent. For those genetically at higher risk for colon cancer, annual colonoscopies starting at age 30 instead of 50 saves lives.

Mapping the genetics of tumors has resulted in the development of drugs that more accurately and effectively target weaknesses in cancers. Place the breast cancer drug Herceptin, which targets the HER2/neu receptor, in this category.

Using genetic testing, doctors can now also predict the response of particular tumors to particular drugs, or rule out toxic therapies that aren't needed.

"One breast cancer test that is a direct consequence of our understanding of our genome allows women with negative lymph nodes at the time of surgery to find out whether they need to go through chemo or not, which can prevent a great deal of unpleasantness and is saving our health-care system about $100 million this year," Collins noted.

What hasn't happened?

"We aren't able to predict who's at risk for more common diseases, like coronary artery disease or hypertension or stroke or asthma," said Dr. Robert Marion, chief of genetics and development medicine and director of the Center for Congenital Disorders at Children's Hospital at Montefiore Medical Center in New York City and author of Genetic Rounds: A Doctor's Encounters in the Field that Revolutionized Medicine.

And while "the $1,000 genome is virtually a reality," said Dr. James P. Evans, editor-in-chief of Genetics in Medicine and a spokesman for the American College of Medical Genetics, "interpreting that information will be a monumental task; one that makes the Human Genome Project look like small potatoes."

"Whole genome sequencing will be the first medical test in history which is guaranteed to be abnormal in every single person who undergoes it," Evans added. "We are all mutants. The challenge will be how to interpret and use that information for better health, and that path is a much more complicated one than simply deriving the basic genomic sequence of a representative human."

What does Collins predict will happen now?

The cost of sequencing the human genome could drop even lower than $1,000, he said. "There will be increasing reasons for each of us to have our complete genomes determined and placed in medical files," Collins noted.

"Five years after that, there will be compelling enough evidence that this is good medicine for both prevention and treatment that third parties will cover the cost," Collins said. "Health-care providers will have immediate access to [this information] about you, about what decisions to recommend. It's not one-size-fits-all, but really just about you."

"When I was in training, genetics was a small insignificant subspecialty of pediatrics," Marion noted. "And now pediatrics is a small insignificant subspecialty of genetics."

More information

Visit the U.S. Department of Energy Office of Science for more on the Human Genome Project.

SOURCES: Francis Collins, M.D., Ph.D., director, U.S. National Institutes of Health, Bethesda, Md.; Robert Marion, M.D., chief, genetics and development medicine, and director, Center for Congenital Disorders, Children's Hospital at Montefiore Medical Center, New York City; James P. Evans, M.D., Ph.D., editor-in-chief, Genetics in Medicine and spokesman, American College of Medical Genetics; April 1, 2010, Nature

Copyright©2010 ScoutNews,LLC.
All rights reserved

Related medicine news :

1. Tiny Fish Might Help Humans Fix Damaged Hearts
2. Leading Healthcare Human Resource Consulting Firm, Integrated Healthcare Strategies, Launches New Website
3. Humans Tree-Dwelling Ancestors May Have Also Walked Upright
4. New Exhibition Hall Devoted to Human Origins Opens at National Museum of Natural History
5. Justice Department Files for Immediate Relief Regarding Conditions at Conway Human Development Center, in Conway, Arkansas
6. Infectious Virus Hides In Human Chromosomes During Latency And Can Be Passed From Parents To Their Children
7. Alzheimers Association Honors Social Security Commissioner Michael Astrue With Humanitarian Award
8. Gene Sequencing Yields Picture of Human Gut
9. Master Zhi Gang Sha Dedicates Soul Healing Blessings for Humanity Service to Chile's Earthquake Victims
10. March of Dimes President Dr. Jennifer L. Howse Wins Prestigious Humanitarian Award
11. Ghrelin mitigates liver fibrosis in animal models; regulates human fibrosis
Post Your Comments:
(Date:12/1/2015)... ... 2015 , ... The Multiple System Atrophy Coalition has announced the launch of ... (MSA) research, timed today to coincide with Giving Tuesday 2015, a global day of ... to work and be productive, to do simple daily activities like walking to the ...
(Date:12/1/2015)... ... December 01, 2015 , ... Henderson, a town of about ... Internet through a partnership this year with Aeneas Internet and Telephone. , With ... destination for entrepreneurs who want to build a business. Whether startups or long ...
(Date:12/1/2015)... ... 01, 2015 , ... Integrated Rental Services (“Integrated Rental”), a ... LLC (“JII”). , With support from JII, Integrated Rental is poised for expansion ... centers, clinics, research labs and medical facilities across the United States. , General ...
(Date:12/1/2015)... (PRWEB) , ... December 01, 2015 , ... ... for oncology and hematology continuing medical education (CME), today announced that the first ... Grand Hyatt New York. , “The prevention, detection and treatment of gastrointestinal cancers ...
(Date:12/1/2015)... ... December 01, 2015 , ... Dr. Paul Vitenas, one ... Surgery, has been named by MedEsthetics magazine as the Best Single Physician Practice in ... among the many elite aesthetic physicians honored by the industry publication. , Dr. ...
Breaking Medicine News(10 mins):
(Date:12/1/2015)... , Dec. 01, 2015 ... addition of the "Medium Molecular Weight ... Lubricants, and Other Applications - Global Industry ... 2015 - 2023" report to their ... announced the addition of the "Medium ...
(Date:12/1/2015)... AMSTERDAM , Dec. 1, 2015 /PRNewswire/ -- ... announced SkyFlow , an X-ray imaging software that ... clinicians decide not to use a grid, at the ... (RSNA) 1 . SkyFlow is Philips, first digital ... for grid-less radiography, which improves clinician,s workflow and supports ...
(Date:12/1/2015)... WASHINGTON , Dec. 1, 2015  Athletic ... its founder have agreed to pay $1.35 million ... deceptively advertised the company,s copper-infused compression clothing would ... by arthritis and other diseases. ... also requires the company and its founder and ...
Breaking Medicine Technology: