Reata and Invitae Partner to Offer Genetic Testing and Counseling for Chronic Kidney Disease

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by Mary Chapman |

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COL4A5 case report

To promote the diagnosis of chronic kidney disease (CKD), genetic information company Invitae and Reata Pharmaceuticals are collaborating to offer free testing and counseling support.

Alport syndrome accounts for an estimated 3% of children with CKD and 0.2% of adults with end-stage renal disease in the United States, according to the Alport Syndrome Foundation.

The program, called Kidneycode, seeks to help CKD patients in the U.S. ward off kidney failure, also known as end-stage kidney disease — the result when CKD is left undiagnosed. Early genetic testing is widely viewed as a direct, cost-effective, and accurate diagnostic tool.

By offering specific genetic data, Kidneycode can help those at risk for progressive CKD make time-sensitive healthcare choices, according to a press release. In particular, testing can identify disease risk, speed diagnosis, inform disease management strategies, foster clinical trial participation, lead to support services information, and link families to patient advocacy groups.

To be eligible for testing, patients must have an estimated glomerular filtration rate (which indicates level of kidney function) that’s equal to or lower than 90mL/min/1.73m² and either hematuria (blood in urine) or a family history of kidney disease.

Another way to qualify for free testing is to be diagnosed with Alport syndrome (through biopsy) or with focal segmental glomerulosclerosis (FSGS), or be suspected of having either condition. Also eligible are family members of patients who are diagnosed with, or are suspected of having, Alport or FSGS.

The Invitae Progressive Renal Disease Panel tests for 17 genes known to be linked to CKD, including the COL4A5, COL4A3, and COL4A4 genes associated with Alport syndrome.

The test is performed on saliva or blood samples, and takes about 10 to 21 calendar days.

Kidneycode also provides complimentary family variant testing for blood relatives of patients who tested positive through the program. This includes comprehensive analysis of the gene in which the family member’s variant, or mutation, was identified.

Affecting between 30,000 and 60,000 U.S. residents, Alport is a genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. Most patients experience progressive loss of kidney function, usually resulting in end-stage kidney disease. In 80% to 85% of cases, the syndrome is caused by mutations of the COL4A5 gene.

Kidneycode participants will be offered Invitae-underwritten post-test genetic counseling through GeneMatters to help them understand their test results. Visit this site for more information or to schedule an appointment.

Although Reata provides funding for some aspects of the program, tests and services are through independent third parties. The company receives certain aggregated and de-identified program data only. Healthcare professionals and patients are not obligated to purchase or use Reata products. However, healthcare providers are required to confirm the program eligibility of patients.

About 30 million U.S. residents have CKD and millions others are said to be at risk. The disease can go undetected until the advanced stage.

In a recent sequencing analysis of 3,315 CKD patients, gene abnormalities associated with rare disorders such as Alport syndrome were found with markedly greater frequency than previously reported, according to the Kidneycode website.


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