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China (inadvertently?) Bans Clinical Sequencing

    

The Chinese Food and Drug Administration (CFDA) reportedly issued an announcement on February 9 that ordered an end to ‘clinical applications of gene sequencing’ and  instructed medical institutions to cease practicing gene sequencing in clinical applications until official standards and regulations are issued. The details are sketchy at best (I found out in an email from a colleague in Beijing) but it appears that the CFDA’s goal was to regulate a certain kind of prenatal genetic test but it may have inadvertently ended up banning clinical genomics. According to my colleague, the wording of the ban was sufficiently vague that many doctors are left wondering if they are allowed to run Sanger sequences. One assumes that no medical geneticists were involved in the drafting of the cease and desist letter.

According to Beijing News, the CFDA was trying to announce that prenatal genetic tests using cell free fetal DNA (cffDNA) found floating in maternal serum would henceforth be regulated by the CFDA. cffDNA allows for non-invasive detection of several genetic abnormalities by sequencing DNA fragments which cross the placental barrier. The most common conditions tested prenatally are chromosomal trisomies, especially Down syndrome. It can also detect fetal sex and several sub-chromosomal abnormalities. This kind of non-invasive testing is widely available in the US, where it must be ordered by a doctor. Because it is considered a laboratory developed test, the US FDA does not regulate the safety and efficacy of cffDNA tests. In China, two companies, BGI and Berry Genomics, offer cffDNA testing and, reportedly, uptake has been high. So what does this new ban mean?

Prenatal care is a sensitive issue in China, where strong familial duty toward reproduction coupled with State restrictions on the number of children can combine to put enormous pressure on a pregnancy. And because of ingrained cultural pressures towards male children, there is a history of female aborticide which has led the government to declare a ban on returning fetal sex information to potential parents (according to Mara Hvistendahl, this ban is routinely violated during ultrasound visits using non-verbal cues, but the ban is there is theory). While both Berry and BGI contend that they do not return fetal sex information in their results, the CFDA could be concerned that, because the results are sent directly to the patients, there is too little oversight of this process.

Disability is also a difficult issue in China, as it is in many developing countries. Many families in China live close to subsistence level and ‘healthy’ children are frequently seen as a resource that can help the family thrive. There are also limited social and educational resources available to those with cognitive disabilities like Down syndrome and in many communities there is insufficient medical care to address any kind of serious physical disability. The most common response to a Down syndrome affected pregnancy is abortion (as it is in the US and Europe, whether one counts that a good thing or not). The CFDA may be concerned that individuals may choose to abort a pregnancy on the basis of a cffDNA report of Down syndrome and that it is therefore in their best interest to make sure the tests are accurate.

It’s too early to tell. One imagines that the CFDA will issue a clarification that it didn’t really mean all clinical sequencing and yes, we can go back to doing cancer screening. But the fate of non-invasive prenatal testing in China is interesting to contemplate. While there are major concerns about direct-to-consumer genetic testing, and, yes, especially when it might cause women to consider abortion, cffDNA testing is also a safer alternative to invasive tests like amniocentesis, especially in areas that do not have highly trained medical practitioners. And because it requires only a blood draw, women in rural areas can also access prenatal testing by sending samples to Beijing or Shenzen rather than either spending the money to travel or simply going without prenatal care. The CFDA will have to move fast to clarify how it intends to regulate this technology or risk significant impact on a vast number of pregnancies.