Tag 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.

Ushering in the Era of Personalized Medicine

May 3, 2017

The FDA recently approved 10 of the personal-genomics company 23andMe’s screening tests for hereditary health risks and diseases, issuing a press release that reads: “These are the first direct-to-consumer tests…that provide information on an individual’s genetic predisposition to certain medical diseases or conditions.”

The Wall Street Journal reports that this step “may be the first shot in a health revolution,” allowing patients to make informed decisions about lifestyle choices, and assist healthcare professionals in their advice and discussions. This marks the first time that patients will not have to go through a physician or healthcare provider to receive information about genetic health risks or makeup.

The screening tests include one for Alzheimer’s, and another for a rare blood disorder. Companies like 23andMe and PatientsLikeMe are already developing new technologies and products so that Americans can further manage and monitor their health, studying databases that utilize information from electronic medical records, wearable devices, and patient surveys combined with their genetic codes. 23andMe has formed partnerships with various organizations in the disease research community, spearheading research that explores new potential genetic risk factors for chronic disease.

Embracing this kind of precision medicine will enable us to mine enormous amounts of data and information, in order to further enhance the health of patients across the globe, and possibly halt disease before it develops and progresses.

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.