Skip to main content
Premium Trial:

Request an Annual Quote

Pediatricians Urge Prominent Place for Genetic Technologies in Primary Care

NEW YORK (GenomeWeb News) – As genetic screening, counseling, and personalized medicine continue to become more mainstream in the clinical world, a trio of Johns Hopkins University pediatricians is urging greater emphasis on pediatric primary care.
In a commentary in this week’s Journal of the American Medical Association, the Hopkins researchers argue that primary care pediatrics will play an important role in the “genetics revolution,” because “gene-environment interactions very early in development have profound effects on the emergence of adult diseases such as diabetes, cardiovascular disease, cancer and psychiatric illness.”
The authors include JH Children’s Director of General Pediatrics and Adolescent Medicine Tina Cheng, Children’s Director George Dover, and Ronald Cohn of the McKusick-Nathans Institute of Genetic Medicine.
“Clinicians who care for children will have the first opportunity to ‘predict’ and ‘preemptively’ intercede in the progression of these disorders, thus translating genetics into practice, policy, and communities,” the authors add.
Pediatrics should be one of the leading areas in which primary care physicians begin to incorporate genetics into practice, they propose, and certain efforts should be adopted to be sure medicine is ready for the transition.
Currently, newborn screening policies vary state to state, and regulatory actions about genetic tests come from different agencies or bodies, so universal guidelines should be drawn up for primary care use of genetic testing, the pediatricians argue.
They also support a federal law such as the Genetic Information Non-discrimination Act that would keep insurance companies from using genetic test results to deny coverage. Also, a recognized national organization of primary care clinicians, specialists, and geneticists will be necessary to provide assessments of genetic tests for their suitability in the clinic, the trio advise.
The authors say there will be four types of genetic testing that will become the norm in primary care practice including universal screening for diagnosis of rare diseases, targeted or risk-based genetic screening for diagnosis of more common conditions, screening for predisposition to future health problems such as cardiovascular disease, and pharmacogenetic tests that assess effectiveness of drugs or adverse effects of medications.
“There needs to be a shift in the mindset and in the way primary-care pediatricians view themselves,” Dover said in a statement released yesterday. “We should take genetics out of the realm of the rare and exotic and put it right where it can have the most impact: in primary care pediatrics.”

The Scan

Y Chromosome Study Reveals Details on Timing of Human Settlement in Americas

A Y chromosome-based analysis suggests South America may have first been settled more than 18,000 years ago, according to a new PLOS One study.

New Insights Into TP53-Driven Cancer

Researchers examine in Nature how TP53 mutations arise and spark tumor development.

Mapping Single-Cell Genomic, Transcriptomic Landscapes of Colorectal Cancer

In Genome Medicine, researchers present a map of single-cell genomic and transcriptomic landscapes of primary and metastatic colorectal cancer.

Expanded Genetic Testing Uncovers Hereditary Cancer Risk in Significant Subset of Cancer Patients

In Genome Medicine, researchers found pathogenic or likely pathogenic hereditary cancer risk variants in close to 17 percent of the 17,523 patients profiled with expanded germline genetic testing.