July 15, 2024

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Urine cfDNA testing may replace liquid biopsy to diagnose cancer

Urine cfDNA testing may replace liquid biopsy to diagnose cancer


Urine cfDNA testing may replace liquid biopsy to diagnose cancer.   What are the potential legal implications of analyzing cfDNA in urine samples?


Cell-free DNA analysis in urine for cancer diagnosis—a prospective alternative to liquid biopsy?


A promising new technology may make cancer diagnosis and genetic mutation detection as easy as the urine test in the annual physical examination. Cancer can be detected in its early stages, and the treatment effect is better.


Scientists at the Transformational Genomics Institute (TGen) have discovered a way to detect early-stage cancer by analyzing short-stranded DNA of cell-free DNA (cfDNA) in urine.

Researchers previously believed that DNA fragments in urine are highly degraded, and the DNA fragments are too short to provide a lot of useful information about cancer.

However, the researchers found that the DNA fragments in the urine are not random at all, and can clearly show the difference between healthy people and cancer patients.


By testing plasma and urine samples from healthy people, children with different cancer types, and adult patients with pancreatic cancer, Dr. Murtaza and his team can use whole-genome sequencing to map DNA fragments in urine.

They found that certain regions of the genome in the urine of healthy people can avoid fragmentation, while in the urine of cancer patients, these regions are more fragmented.

The fragment distribution of cancer patients is very similar in multiple individuals, the length of the DNA fragments is similar, and the genomic region where the fragments occur is the same.

Therefore, researchers can determine the cell types that contribute to the DNA fragments.


Dr. Murtaza and his team are known for being the first to use cfDNA in the blood to detect cancer. This method of detecting cancer through blood sampling is now called “liquid biopsy.”

The combination of liquid biopsy and next-generation sequencing (NGS) enables cancer diagnosis and genetic mutation testing without the need for invasive surgical tissue.

Most of us are familiar with the concept of biopsy to diagnose cancer, but diagnosis based on biopsy and pathology is limited by the location of the tumor or the size of the biopsy sample.

In addition, liquid biopsy to detect tumor DNA in CTCs or cfDNA through blood or liquid samples overcomes many limitations, is less invasive, and targets mutations that are more effective, and allows doctors to monitor cancer patients dynamically.


In other words, the development of cfDNA analysis of urine samples has more advantages than liquid biopsy.

For liquid biopsy, the collection of plasma still requires venipuncture, and the amount of plasma collected at a single time point is limited, while urine can be used in a non-clinical environment.

Non-invasive collection, no need to contact the infusion, and it is a larger volume source of cancer-derived cfDNA.

Urine samples may provide a simpler and less invasive method in the future to obtain the same results as liquid biopsy.


What are the potential legal implications of analyzing cfDNA in urine samples? There are a number of federal laws that regulate genetic data, including the Health Insurance Portability and Accountability Act (HIPAA) and the Genetic Information Non-Discrimination Act (GINA).

These laws are based on medical, insurance, and employment conditions. In recent years, GINA and supplementary state laws have alleviated some concerns about genetic discrimination and provided guidance to employers and insurance companies on their legal obligations.

However, GINA cannot completely eliminate people’s concerns about the privacy of genetic data.

Similar to liquid biopsy, the analysis of cfDNA in urine and the discovery of genetic mutations can provide important information on medical malpractice, toxic infringement, and product liability litigation. This information can be used to prove or refute suspected harmful exposure cases.

Causality. The point is that decision makers, industries and individuals must understand GINA’s restrictions and the privacy risks involved in the use of genetic information, so as to promote the early application of promising new technologies.





Urine cfDNA testing may replace liquid biopsy to diagnose cancer

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