Medicine: A Team Sport

Dec. 19, 2014

By Medical Discovery News

Medicine: A Team Sport

Imagine if public use of social media influenced healthcare in the United States. The result would be medical care that’s more patient-centric and data-driven.  Luckily, we don’t have to wait for these two platforms to converge, because it’s already on the horizon. Called participatory medicine, it’s based on four components termed P4: preventive, predictive, personalized, and participatory. This focuses on the patient not just as a recipient of care, but as an active and contributing part of maintaining health and diagnosing and treating disease.

Think of participatory medicine as a team sport that includes a patient, patient groups, specialized social networks, the entire care team, and clinical researchers. All team members have access to the patient’s data and participate equally in making decisions. This is a seismic shift from the traditional doctor-patient relationship, where a patient is generally a passive recipient of healthcare decisions. But in participatory medicine, patients have more control of their health and are accepted as partners in healthcare decisions.

Patient-sponsored social networks may drive participatory medicine into the healthcare industry. Such social networking can provide information about this new approach to medicine and educate other patients. There are already strong social networks for some chronic diseases, offering education, information about clinical studies, clinical advances, and updates on clinical trials. For example, the National Parkinson’s Foundation provides information about this disease, lists clinical trials, reviews the latest research, and has a hotline for people with questions. Parkinson’s patients can stay informed on the current practices and where treatments are heading with the latest information from ongoing clinical trials.

To succeed, participatory medicine will require the compilation of huge sets of data. This data might include the complete genomic sequence of every patient. Such a thing was unheard of just five years ago, but the more affordable cost of genome sequencing can now make this a reality. Comparing the genomic sequence and data sets of people with the same disease could provide clues about how they can stay as healthy as possible and how to reduce the incidence of that disease by examining possible genetic and environmental causes. Already, comparisons of cancer patients’ genomes have revealed that certain mutated genes, such as the BRCA1 gene linked to breast and ovarian cancer, could be responsible for cancerous growths. This has also lead to the development of drugs that specifically target cancer-invoking genes to combat the cancer. Such individualized cancer therapies all started with the analysis of large data sets. Once established, this new way of applying medicine will drive down the cost of healthcare and make trial-and-error treatments obsolete.

Large, longitudinal studies plan to take the medical application of data analysis to the next level by following 100,000 people for 30 years. Every year, researchers will collect a panel of multiple lab measurements from subjects and interview them to determine their overall health and environment. The database generated will provide answers to how we remain healthy and what genetic and environmental factors are associated with different states of disease. This will transform medicine’s ability to keep people healthy and allow early prediction for those likely to develop certain diseases.

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The Little Denisovan Girl and Us

Jan. 4, 2013

Medical Discovery News

We are now able to analyze the genomic sequences of prehistoric humaniods to learn how they differed from modern humans

The words screamed off the page:  “Genomic Sequencing Brings Ancient Girl to Life!” While such headlines bring to mind reanimated mummies, they actually referred to the successful extraction and complete genomic sequencing of a young girl who lived 80,000 years ago. This is the first time the quality of the genomic sequence of any ancient species has rivaled that of the living people today.

This study pioneered a new approach in DNA sequencing. DNA, while known to be hardy, cannot usually be extracted in the double stranded form from fossils like it can be from living organisms today. Researchers used a small piece of the knuckle of her pinky finger to extract the girl’s ancient DNA.

Researchers developed an effective strategy utilizing the single-stranded DNA fragments they extracted. This new approach generated up to 20 times more readable DNA sequences than previous methods could have. In the end, researchers put together a high-resolution genomic sequence.

The quality of the sequence amazed scientists because it matches the resolution of genome sequencing from living organisms today. For example, they determined that the girl had brown skin, hair, and eyes. 

The girl’s sequence holds important hints of human evolution. She belonged to a lesser-known sister species to Neanderthals called Denisovans, which have only been found in Southern Siberia. It was obvious that she had 23 pairs of chromosomes, the same as modern humans. Chimpanzees have 24 chromosome pairs, so Denisovans were definitely more human than ape-like.

By aligning differences in the DNA sequences, scientists estimated that the Denisovans split from humans between 170,000 and 700,000 years ago. When compared to chimpanzee sequences, there were fewer differences than those between modern humans and chimpanzees.  Due to the new sequencing technique, scientists can more accurately date when a fossilized person or animal lived and died. Such advances may alter the time frame of human and animal evolution.

Other recent studies indicate 1 to 4 percent of European and Asian DNA came from Neanderthals. Since Africans have no Neanderthal DNA, interbreeding between Neanderthals and humans occurred after humans left Africa and migrated to Eurasia. Only humans from Papua, New Guinea, shared DNA with Denisovans, but a trace amount of similarity was seen in the genomes of the Han and Dai peoples in mainland China. Scientists don’t yet know the connection between these groups.

Overall, researchers documented more than 100,000 DNA sequence changes between Denisovans and modern humans. Of high interest were eight changes in genes that play a role in the “wiring” of the human nervous system, including one linked to autism and one associated with speech defects, raising questions about the speech and mental capabilities of these early ancestors. Scientists will continue to learn more about early humans and their predecessors using this new approach to DNA sequencing as a “molecular time machine.” 

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