Gene Technology Set to Shine Across Seven Key Areas in the New Year

In the coming years, many of the world’s unresolved medical challenges will point to a single solution: gene technology.

Significant advances in pharmacogenomics and direct-to-consumer genetic sequencing have led to the massive accumulation of genomic data. The development of in-memory computing technologies has enabled medical researchers to analyze and utilize genomic data in novel ways. The impact of genetic technologies on clinical practice is becoming increasingly tangible, as exemplified by the use of liquid biopsy DNA tests for cancer screening. No longer content with merely detecting genetic variants, scientists are actively exploring methods to modify genes. Gene-editing technologies such as CRISPR-Cas9 may soon offer life-saving interventions for patients previously facing terminal diagnoses.

Many large-scale genomics projects are poised for launch, heralding 2017 as a year of substantial harvests in genetic science. According to predictions by the renowned U.S. biotechnology website genengnews.com, gene technologies will shine in several areas, exerting a significant impact on the healthcare and life sciences markets.

To bridge the gap between translational medicine research, clinical diagnosis, and disease treatment, research teams and frontline healthcare workers are exploring ways to integrate genomic data into clinical practice. Currently, gene-assisted clinical therapy is still in its infancy; while some large clinical medical centers have begun leveraging genomics to enable personalized medicine, this approach has not yet been widely adopted by healthcare institutions.

The expanded clinical application of genetic testing is largely attributable to the "celebrity effect," as high-profile cases of individuals undergoing genetic interventions have raised awareness of its value among both the medical community and the general public. The most widely publicized example is Angelina Jolie’s BRCA gene mutation, which indicated a high risk of developing cancer and led her to undergo a preventive double mastectomy.

Genetic testing revealed that Angelina Jolie had an 87% risk of developing breast cancer and a 50% risk of developing ovarian cancer.

As more disease-associated gene mutations are discovered, genetic data will play an increasingly extensive role in clinical treatment decision-making.

Another area poised for acceleration in 2017 is pharmacogenomics. Physicians have long observed that patients metabolize the same drug at the same dosage at varying rates. Pharmacogenomics, the study of how genes influence drug response, represents another example of genomics playing a significant role in therapeutic applications.

The Clinical Pharmacogenetics Implementation Consortium (CPIC) has issued specialized pharmacogenomic prescribing guidelines designed to provide guidance for individuals with specific genetic variants. Through relatively low-cost drug metabolism genotyping tests ($200–$500), physicians can determine an individual’s metabolic rate for certain medications, including those used in the treatment of HIV/AIDS and cancer.

In certain treatments, this test proves particularly valuable. For instance, some patients with HIV/AIDS face a risk of hypersensitivity, which can even be fatal, when taking a medication called abacavir. If a patient carries the HLA-B*57:01 allele, the risk of an allergic reaction is significantly higher.

With the advancement of pharmacogenetic testing, conventional dosing instructions on drug labels, such as “take one tablet three times daily,” may disappear. They will be replaced by personalized and dynamic medication recommendations, in which age, sex, race, and genetic factors serve as variables in dosing models. This approach not only reduces medication waste but also improves therapeutic efficiency, potentially rendering adverse drug reactions a thing of the past.

CRISPR-Cas9 technology has sparked a wave of enthusiasm in the field of gene editing, sweeping through biotechnology laboratories and startups worldwide, thanks to its precision and relative affordability. From modifying crop genes to boost food yields to correcting deleterious human genetic mutations that impact health, CRISPR holds immense potential across all facets of biological science.

Scientists have developed an AIDS vaccine using CRISPR technology. The principle involves using precise CRISPR-Cas9 “scissors” to excise the HIV viral genome and rejoin the broken ends of human DNA. Meanwhile, Chinese scientists have also begun conducting CRISPR-Cas9 experiments on non-viable human embryos, modifying genes associated with β-thalassemia, a fatal disease.

Another major therapeutic tool worth watching in 2017 is DNA liquid biopsy testing: cancer screening can be performed through a simple blood test. Dying cancer cells release small amounts of DNA into the patient’s bloodstream, thereby facilitating early cancer screening. In China, research hospitals are extensively evaluating this method to assess its feasibility for screening diseases such as liver cancer and nasopharyngeal carcinoma.

Non-invasive cancer screening holds promise for replacing imaging and invasive tissue biopsies in the future, potentially enabling detection even before tumors become visible on imaging. Unlike whole-genome testing, DNA liquid biopsy focuses only on specific genetic subtypes and is poised to become a highly practical tool in cancer diagnosis.

As more direct-to-consumer (DTC) genetic testing companies enter the market, public acceptance of genomic medicine continues to rise. 23andMe has encouraged more individuals to explore their genetic makeup, offering online reports on 65 genetic traits. These include ancestry, personal characteristics (such as taste preferences, body odor, and likelihood of baldness), as well as carrier status for conditions like cystic fibrosis, sickle cell anemia, and hereditary deafness. For specific disease-related genes, the company also provides access to genetic counselors to help consumers better understand what their test results indicate regarding disease risks.

Not all new direct-to-consumer (DTC) genetic tests focus on diseases with grim prognoses. Companies like Ancestry.com also offer saliva-based genetic testing, allowing individuals to explore their ethnic composition across 26 different regions, locate distant relatives, and gain a deeper understanding of their ancestry. The company claims to possess the world’s largest consumer DNA database, containing genetic data from over 2 million individuals.

One practice that may emerge within the next decade is universal genetic sequencing for every newborn, with the resulting genomic data stored in electronic health records or other medical data systems. In the near term, prenatal genetic screening is also expected to continue its upward trend. Pregnant women can easily undergo non-invasive fetal genetic screening, which assists physicians in assessing the risk of chromosomal disorders such as Down syndrome in the fetus.

Some relatively new companies, such as Counsyl (www.counsyl.com) and Natera (www.natera.com), offer these prenatal screening services, enabling parents to assess the likelihood that their child’s genes will lead to developmental disorders. Such tests are now covered by most insurance plans and are expected to become even more widely adopted in the future.

We may also witness the advent of genetic testing for neonatal pharmacogenomics within the next 5–10 years. Armed with knowledge of an infant’s ability or inability to metabolize specific drugs, physicians can make more informed, data-driven medication decisions. Furthermore, the data from these pharmacogenomic tests can be permanently stored in the individual’s medical record, supporting treatment decisions throughout their lifetime and thereby enabling proactive and preventive healthcare.

As genetic testing becomes more widely adopted, genetic data will gradually accumulate, enabling medical researchers, physicians, and even the general public to gain a deeper understanding of disease predispositions linked to genetics. Gene-editing tools, new data streams from wearable devices, pharmacogenomics, and direct-to-consumer genetic testing all converge on the shared goal of improving population health. By leveraging big data analytics, the medical community will identify patterns within vast amounts of DNA data, pioneer novel precision therapies, and ultimately enhance the quality of life for millions of people.