Category Archives: Genetics

Using Genetic Testing to Target Disease

August 1, 2017

A new study recently published in the journal JAMA Pediatrics indicates that young children with epileptic seizures should be given routine genetic testing.

The study’s lead author Anne Berg, of the Stanley Manne Children’s Research Institute at Lurie Children’s Hospital of Chicago, states: “Precision medicine means nothing without precision diagnosis, and we can now provide precision diagnosis.”

Many researchers and physicians have supported the idea that genetic testing should be incorporated into routine initial evaluations, specifically of young children with epilepsy: the sooner a precision diagnosis is made, the sooner the child can begin effective treatment. Moreover, the level of genetic information provided through testing is extremely successful in helping physicians identify which drugs and treatments are effective, and which to avoid.

Not only does this study reinforce data that could successfully and effectively change epilepsy diagnosis, but it also confirms the idea that precision medicine should be a fundamental part of standard clinical practice.

Yet this is by no means the first study surrounding the idea that genetic testing could potentially transform levels of care, as many conditions have underlying genetic causes. Due to advances in DNA testing technology, clinicians are now able to provide more accurate, precise, and individualized ways to pinpoint genetic variations that lead to disease. Over the past two decades, the number of genetic disorders for which DNA testing is available has increased from about 10 to over 1,000, due to advances in molecular genetics.

For many disorders, genetic testing is the only way to make a completely accurate diagnosis—and avoid additional, unnecessary clinical investigations. With some genetic diseases, a combination of good surveillance and early intervention can decrease the risk of mortality, and be helpful in future family planning. Clinicians who can understand and interpret the data generated by genetic testing will be more able to choose the most appropriate, suitable therapies and support strategies for patients.

Human Gene Editing

March 2, 2017

The National Academy of Sciences, in collaboration with the National Academy of Medicine, has lent their support to a “once-unthinkable” proposition: modifying human embryos, in order to create genetic traits that can be transferred to future generations.

Notwithstanding the medical and scientific complications, human gene editing has historically posed an ethical dilemma, as scientists fear that techniques used to prevent hereditary and genetic disease might also be used to create specific physical traits, or enhance intelligence.

A special science advisory group has solely endorsed alternations that are designed to prevent babies from acquiring genes known to cause “serious diseases and disability,” and only when there is no “reasonable alternative.” This engineering might allow people to have children without fearing that they have passed on genetic traits for diseases and disabilities like Huntington’s and Tay-Sachs.

The advent of a specific gene-editing tool called Crispr-Cas9 has allowed researchers to alter, insert, and delete genetic material with rapidly increasing precision, and has spurred plans for experimental treatments of adult patients with conditions like cancer and blindness.

Yet opponents of this new technology argue that human gene line editing will lead to the engineering of traits like beauty, strength, intelligence—ultimately leading to the possibility of a disproportionate divide between those who can afford enhancements, and those who cannot.

There are also questions of safety and autonomy, in addition to social justice and moral concerns. Despite the precision of Crispr, its ‘off-target’ effects include cutting DNA at places it is not meant to—leading to the inadvertent creation of new complications. Furthermore, while the published report prohibited any alternations that resembled ‘enhancement,’ it is not clear where the line is drawn.

Nevertheless, it will likely be years before gene-editing techniques tested in animals can simultaneously work in humans. The Food and Drug Administration currently prohibits the allotment of any federal money to support research that results in genetically modified offspring. This groundbreaking step will likely only be considered and implemented after more research and studies, and only conducted under extremely tight restrictions.

Modern Medicine: Gene Therapy Revolutions

January 10, 2017

The technology of gene therapy has long been viewed as a pragmatic way in which to erase disease, by revising people’s DNA.

Gene therapy, as defined by the U.S. Food and Drug Administration, is a treatment in which a kind of replacement gene is added and integrated into a person’s body—or a disease-causing gene is inactivated. The process involves the addition of new instructions to cells, via billions of viruses with correct DNA strands.

The procedure is complex, first tested in 1990 with an abundance of negative side effects. While the past two decades have seen immense progress, gene treatments run at exorbitantly expensive prices.

Yet scientists and biotechnology entrepreneurs have continued to work and funnel money and resources into gene therapy, and 2016 has seen further growth and development. Italian scientists at Milan’s San Raffaele Telethon Institute for Gene Therapy reported that they had cured 18 children of a rare, extremely debilitating immune deficiency disease—ADA-SCID—by removing the children’s bone marrow and adding a gene to make the ADA enzyme that their bodies lacked.

Moreover, although the revolutionary cancer treatment that uses gene engineering to reprogram immune cells is not always considered a form of gene therapy, this type of immunotherapy has been proven to destroy certain types of cancer.

There is an abundance of promising results through human tests and studies, and 2017 will likely be the year in which the FDA evaluates and assesses several gene therapies. These include a treatment for hereditary blindness; approval would be an enormous breakthrough moment for the biotech industry—and one of the most inventive and pioneering ways to fully eradicate disease.