Testing your family's genetic makeup is about to get a whole lot easier.

Genetic testing, like most technologies leading up to the singularity, has its pros and cons. Would-be parents can feel better knowing they don’t have to pass on life-threatening conditions to their offspring; they might be carriers, but that doesn’t mean their children have to be. For instance, the neurological disorder Tay-Sachs has virtually disappeared because of carrier screening. The foray into this new era of information sharing is bound to effect our lives, but how? A loss of privacy could lead to unjust discrimination. The time of genetic selection using low cost solutions is at hand. But reading genes isn’t exactly like testing for high blood pressure. We should fully understand both the benefits and the consequences of sharing this kind of information before genetic testing is packaged and fed to the masses. Want to know how personal genomics is similar to Web 2.0? Check out the video below.

Shaping one’s own destiny is part of the human equation. When former CEO of Solexa John West ordered whole genome sequencing for his entire family, the industry took notice. By participating, not only could each family member better provide for his or her own health care, but identical genes on opposing chromosomes could be studied in greater detail. For both scientific research and family wellbeing it was a win-win situation. Linda Avey, co-founder of the genetic testing company 23andMe who had her three children genotyped, found that her fraternal twins are identical in the region of the genome where the immune system is inherited; this information would be useful should one of the twins require an organ transplant. Situations like these clearly demonstrate the benefits of gene testing, and soon the service will be available to everyone.

A new market is emerging to make genetic information available to the public. At an average of a few thousand dollars, genetic testing services are now affordable for many families, and the cost is dropping. The genetics testing company Counsyl offers a $350 universal genetic test that looks for genetic diseases using saliva samples. Women are routinely tested as a part of prenatal care, and a good number are stopping their pregnancies if a disease is discovered. One U.S. startup even wants to offer the service for $30 per sequence. But while we can’t yet roll back the price for genetic testing with any assurance, screening for rare and fatal conditions is at present commonplace. Whether or not you consider sequencing your kids the responsible thing to do, knowing your family’s genetic makeup does have its benefits. Carriers of Huntington’s Disease, Cystic Fibrosis and Sickle Cell Anemia can now decide whether or not to take the risk of passing on harmful traits to their offspring. Screening embryos and using only those without genetic problems does seem logical. And it’s only a matter of time before we can genetically select out more diseases.

As the cost of genomic sequencing drops, we may see more commercial niches for gene therapy, including designer athletics and contracting for military personnel. But what are the implications of sharing this kind of information? If embryo screening and artificial design become legally permissible and universally accepted, widespread selective breeding could begin a new era in eugenics that, if unchecked, could favor certain populations over others based on politics, false perceptions and prejudice. Employers could choose to hire or fire based on a person’s genetic history. Privacy and patient confidentiality could be compromised if hospitals and insurance companies see genetic testing as a viable way to curb rising health care costs. Genetic makeup could provide yet another reason for disparities in housing, education, and employment.

Fortunately for now, we can breathe a bit easier. The Genetic Information Non-Discrimination Act (GINA) was passed in 2008 to prevent gene-based discrimination by employers and insurers. But the law does have a number of ambiguities, which leaves the future of genetic rights uncertain. Just because we have the rights doesn’t mean we want the world to have our genetic information. In the video below, Yale Professor of Biomedical Informatics Mark Gerstein touches on the issue of privacy around this new type of information sharing.

In the near future, screening your genes may be as commonplace as getting vaccinated. But the difference between getting the flu shot and eradicating Huntington’s Disease from your bloodline is a big one. At what point will citizens be responsible for cleaning up their own genome? When will that be determined and by whom? The scenarios presented here may seem daunting, and as we’ve seen with nuclear energy, stem cell research and genetic cloning, great power demands responsibility and foresight. There’s no compelling reason to think the human race won’t prevail over adversity. But we need to keep both eyes open as genetic testing develops, or we might just end up selecting out our rights along with all of that other unwanted stuff.

[photo credit: MIT]
[video credit: Fora.tv]
[source: NDSU]

Sickle cell anemia is a congenital blood disorder that affects all races, but is most common to persons with African ancestry, affecting about 72,000 in the US and millions worldwide. Red blood cells normally take the shape of a doughnut without its hole; in the blood of sickle cell patients, the cells assume an abnormal sickle shape. Sickle cells block small blood vessels and inhibit blood flow, which causes debilitating pain, damages organs and increases the risk of stroke. Many of the risks of sickle cell can be mediated through early diagnosis, dietary supplements, and drug treatment.  But even with modern treatment, life expectancy for sickle cell patients is 42 in males, 48 in females. Some severe cases are resistant to existent therapies and can cut life even shorter.

Because red blood cells are produced in bone marrow, some high-risk children qualify for marrow transplants from a suitable sibling donor. Like all organ transplants, the procedure carries the danger of immune rejection, and so requires immunosuppressant drugs in addition to radiation therapy to kill diseased marrow. Transplants have been traditionally restricted to children, whose organs are comparably stronger than adults who suffer from the disease. Transplants are rare – there have been about 200 in the past few decades – and are attempted only in children whose disorders are life-threatening.

But a new procedure developed by the National Institute of Health (NIH) and Johns Hopkins University has successfully transplanted marrow to adults, reversing the disorder in 9 out of 10 patients. The new treatment uses significantly less radiation (about one fourth) to kill the patient’s existent marrow, combined with the immunosuppressant drug Sirolimus to reduce the likelihood of transplant rejection. By allowing more of the patient’s own marrow to remain, recovery from the transplant is faster and healthier (patients could previously spend months in germ-free isolation while their immune systems recovered). Thirty months after the transplant, the nine patients with successful transplants are healthy and show no side effects.

Many adults with sickle cell anemia take the drug hydroxyurea to treat the disorder. Hydroxyurea works by stimulating the body to produce a form of hemoglobin normally only found during development in the womb. The production of this hemoglobin type helps to balance the proportion of healthy vs. sickle cells in the blood, and reduces the damage done to lungs, kidneys, and liver (not to mention the risk of stroke). But hydroxyurea doesn’t work for all adult patients, making the prospect of adult marrow transplant a much-needed form of alternative therapy.

Kelly Halloway, the first half-match donation recipient at the National Institute of Health

So far, most adult patients who have received marrow transplants have had “full match” donors – siblings with a fully compatible genetic makeup. The chances of a sibling being fully matched are only 25%. But new procedures are expanding the pool of potential donors to “half match” donors, which includes parents and improves the likelihood of a compatible sibling to 75%. That means more sources of transplant marrow, and a better shot at a successful reversal of the disease.

Future research will aim to expand marrow transplants beyond sickle cell patients. Several other congenital blood diseases could conceivably be treated with marrow transplants, including such debilitating disorders as beta-thalassemia. Researchers are currently exploring the emerging possibilities of adult marrow transplants, and will doubtless yield more amazing treatments in coming years.

[image credit: Salisbury Post]

Light and Channels and Receptors, Oh My!

This device could be tremendously useful when an epidemic breaks out.  There would be no need for guesswork in outbreaks like the recent swine flu.  Once the disease itself is isolated and added to the database, patients could be told in mere minutes whether they are affected and quarantined so as not to spread the disease.  If these devices disseminated into home use, the results could be even more effective.  Parents would know immediately what their children are suffering from and could respond accordingly.  The entire family could be treated before symptoms are even seen.

Conversely, this system could also help to save money in the already bloated healthcare system.  Patients could test themselves at home for a disease and, if it just turns out to be the common cold, they would not need to go in and see their primary care physician.  There would be no need for extraneous visits to the doctor to run tests that will simply come back negative.  This device could be the biggest breakthrough since thermometers went from rectal to oral.

The device works on the fairly simple concept of light refraction.  If there is something (on the molecular scale) in the way of a beam of light, that beam will be scattered ever so slightly.  It’s a bit like a fingerprint, where no two molecules scatter light in the same manner.  A detector determines exactly how the light was scattered and checks the patterns against a database of known patterns that can positively identify the mystery molecule.  For this to work effectively, the molecule, bacterium or virus needs to be held directly in the path of the light.

To do that, a special microchip of sorts was created with channels for the light to pass through.  Molecular receptors were placed on the chip in such a way that when it binds to a target, it is held in the beam.  On the chip are many types of molecular receptors, with at least one capable of attaching to each species in the database.  As a sample of the patient’s saliva or blood is spread on the chip, the receptors bind the malady in place.

This device is still in its prototype stage, so it will be a few years before “say ahhh” disappears from the doctor’s office altogether.  But the sheer excitement generated by the prospect of this absolutely remarkable machine should be enough to warrant a trip to the clinic or at least a new pair of pants.  The journey from prototype to product is perilous, arduous and time consuming, but hopefully we’ll be seeing this device hitting hospitals in the near future.