Clinical value

Kidney disease diagnosis made easier through DNA sequencing

pixabay

DNA sequencing could soon become part of the routine diagnostic workup for patients with chronic kidney disease, suggests a new study from Columbia University Medical Center. The researchers found that DNA sequencing could identify the genetic cause of the disease and influence treatment for many patients with chronic kidney disease.

An estimated 14 percent of people in the United States have chronic kidney disease, and between 10 percent and 25 percent of these individuals have a family history of kidney problems. Diagnosis typically relies on clinical, rather than genetic, evidence. Even with a kidney biopsy, it can be difficult to identify different subtypes of the disease. As a result, the precise cause of kidney failure often remains unknown.

“Because CKD is usually silent in the early stages, it may not be detected until an individual develops severe kidney problems,” said Ali G. Gharavi, MD, professor of medicine and chief of the Division of Nephrology at Columbia. “At that stage, the patient may be sent to a variety of specialists in order to identify the type and cause of the disease and determine the best treatment. In this study, we hypothesized that genomic testing would help us answer these questions, without sending patients on a time-consuming and often frustrating diagnostic odyssey.”

The researchers performed whole exome sequencing—a technique used to analyze DNA from the protein-coding portion of the genome—in 92 adults with kidney disease. More than half had a family history of kidney problems. Most had been given a clinical diagnosis, but 16 individuals did not know the cause of their disease. The analysis yielded a diagnosis in 22 of the participants, encompassing 13 different genetic disorders syndromes. In 13 individuals, including nine in whom the cause of kidney failure was unknown, the genetic data either explained the original clinical diagnosis or prompted frank reclassification of the patient’s disease.

Our study, though small, demonstrates that whole exome sequencing may offer real clinical value in diagnosing and managing patients with kidney disease.

Dr. Gharavi

“In many cases, these discoveries had an immediate and direct impact on clinical decision-making,” said Dr. Gharavi. “Information from our analysis helped us determine the mode of inheritance, decide which family members should be screened to achieve an earlier diagnosis, and select appropriate related donors for kidney transplantation.”

The researchers also identified three patients who harbored a mutation in a gene not previously associated with kidney failure, thereby defining a new genetic cause of kidney disease. In another patient, the analysis uncovered a BRCA2 mutation, which led to a diagnosis of breast cancer.

“Our study, though small, demonstrates that whole exome sequencing may offer real clinical value in diagnosing and managing patients with kidney disease, especially those with a family history of kidney problems or those with an unknown cause of disease,” said Dr. Gharavi. “Additional studies, in larger and more diverse patient populations, could help better define which categories of patients would benefit most from genomic sequencing in their clinical workup for kidney disease.”


Source: Columbia University Medical Center

05.12.2017

Read all latest stories

Related articles

Pediatrics

New risk staging for children with kidney disease

Experts in pediatric kidney disease have published a new staging system to help doctors better predict the length of time until a child with chronic kidney disease (CKD) will need to undergo a kidney…

Sertraline usage

Standard antidepressant may be ineffective with chronic kidney disease patients

A clinical trial involving hundreds of participants has shown that one of the most frequently prescribed antidepressants may not benefit millions of patients who also have chronic kidney disease…

EADV Congress

Dermatology is the cradle of manifold medical innovations

A number of innovative research results were presented at the 24th Congress of the European Academy of Dermatology and Venereology that took place in Copenhagen from 7 to 11 October 2015. Some of…

Related products

Amplification/Detection

Agena Bioscience - MassARRAY Colon Panel

Agena Bioscience GmbH

Amplification/Detection

Agena Bioscience - MassARRAY Dx Analyzer 4

Agena Bioscience GmbH

Amplification/Detection

Agena Bioscience - MassARRAY Dx Lung Panel

Agena Bioscience GmbH

Clinical chemistry

Agena Bioscience - MassARRAY Dx Nanodispenser RS 1000

Agena Bioscience GmbH

Integrated systems

Biomed – GenomEra CDX Instrument

Biomed Labordiagnostik GmbH