Jason Millstein

Would you want to be tested for a gene mutation that radically increases your cancer risk? Aviva Schulman chose not to be. She asked, "What is the point of knowing?" After growing up in Brazil, Schulman moved to north London. Her family is of Eastern European Ashkenazi Jewish descent, putting her within the group most commonly found to carry the defective BRCA1 or BRCA2 genes linked to hereditary breast cancer. She has since been treated for breast cancer.

"I was unaware of any history of cancer in my family. A cousin had colon cancer, but I didn't give it much thought. Then in 2004, I was diagnosed with tumours in my breasts. I had a double mastectomy." When Schulman phoned her family in Israel to tell them about her diagnosis, she discovered that another cousin had been diagnosed with breast cancer a year earlier - and also had the BRCA2 gene mutation.

"In Israel they automatically do the test and tell you to notify your family. But my cousin said nothing. I could have been tested a year earlier."

Since they were discovered in the 90s, the BRCAs have become among the most heavily researched genetic mutations. BRCA1 and BRCA2 are responsible for creating proteins that fix broken DNA strands, but when the genes mutate the cells produce bad proteins that are unable to repair the DNA, which can lead to cancer. Hereditary cancers account for five per cent of the UK's 41,000 annual breast-cancer cases. In the general population, one in 1,000 carry the mutated BRCA1 gene, and one in 700 carry the faulty BRCA2 gene. In the Ashkenazi community, one in 40 women carry one or both faulty genes. After the discovery of the BRCA gene mutations, many women were tested and chose to have a double mastectomy, even though a proportion would probably never develop the disease.

In the US, this research sparked fierce debate in the Jewish community about the project's potential for discrimination, with some comparing the focus of the medical establishment to Nazi-era eugenics programmes. In 2005 the European Patent Office considered the ethics and legality of the first case of racial-gene patenting, when Myriad Genetics reapplied for worldwide monopoly rights for "diagnosing a predisposition to breast cancer in Ashkenazi Jewish women". Geneticist Gert Matthijs, speaking against Myriad, said that if the patent were allowed it would mean he could test free of charge for the mutation only if "the woman doesn't say she is an Ashkenazi Jew".

After three appeals, the European Patent Office decided in November 2008 to reinstate one of three Myriad patents held on the BRCA1 gene (Myriad's patents on the BRCA genes are now owned by the University of Utah), which specifically relates to frame-shift mutations most commonly found in Ashkenazi women. A second patent relating to the Ashkenazi mutation on BRCA1 was also upheld. Matthijs said: "No other group finds itself in this position. Other populations have greater genetic differences, but the gene mutations in the Ashkenazi Jewish population have been identified and can be tested with a simple kit. Producing that test kit for that community has commercial advantages. But, obviously, that group will have to pay royalties to take the test."

Schulman said that the requirement to enter the results of the BRCA test on subsequent medical insurance forms had influenced her decision not to be tested: "I asked myself, 'What have I got to gain?' I assume I have the gene because my cousin told me that my aunt also had a malignant lump. The only thing is my daughter, but what will she gain by knowing? I'm happier for her to have her a yearly check-up instead."

The Ashkenazi Jewish community continues to find itself under the medical spotlight. In January, specialists at University College Hospital in London announced the birth of a baby who'd been screened as an embryo to ensure that she was free of BRCA abnormalities. A pilot programme at the hospital is now investigating how screening for the genes might be offered to a wider population, and is currently offering free screening to all members of the Ashkenazi Jewish community in London.

Further research has indicated, however, that other minority groups also exhibit high rates of BRAC1 abnormalities, including Hispanics. A very high 16.7 per cent of African- American women with breast cancer under the age of 35 also had the abnormal gene.

To illustrate the argument that race-based medicine reveals a crude and incomplete picture, Craig Venter points to a Columbia University study published in the American Journal of Public Health. It concluded that there was no point in seeking specific racial genes for breast cancer within Ashkenazi Jewry, because the group had been so diluted by breeding with other racial groups.

Venter is the man perhaps most responsible for recent discoveries that paved the way for the development of race-based medicine, but he is also its most vehement critic. "It's bad science," he says. "Race-based medicine is my pet peeve. You can't tell a book by its cover. Race is a social construct; it is very unlikely that your skin colour will be the basis of your genetic group."

As the first person on the planet to have had his entire genome sequenced, Venter claims to have had "more time to think about this issue than most". Venter's approach to mapping the human genome was described as "quick and dirty" by US government scientists when his revolutionary technique outpaced them. Back then, he was the maverick who changed our understanding of DNA; but now "quick and dirty" is how Venter describes the efforts of scientists and pharmaceutical companies currently trying to develop genetic race-based medicine. "I just think that it is not defensible at all. And the faster we get genetic information, the faster people will realise it is a meaningless criterion."

Venter now occupies an office at the J Craig Venter Institute in Rockville, Maryland. Sitting at his desk in jeans and an open- necked shirt, he says his thoughts about race-based medicine crystallised after his genome was compared to that of fellow scientist James Watson. Venter says that both he and Watson are "bald middle-aged Caucasians, but genetically we are totally different". The study showed that Watson had traits usually found in Chinese populations. "We have different types of drug metabolism," Venter says. "James has a rare genetic combination - if we took the same dose of an antidepressant drug, he would overdose and I would be under-dosed. There is more genetic difference between all the people with dark skin than there is between people with light skin and dark skin."

He argues that race-based medicine should be nothing more than a stop gap en route to the true goal: personalised medicine, made affordable by the $1,000 genome. (This is the figure at which it would be affordable to map everybody's DNA and tailor treatment accordingly, he says.)

Decoding his genome revealed that Venter has a slightly higher statistical probability for developing heart disease and Alzheimer's. "That would be the worst disease for me, so I take a statin as a preventative measure. But my genome didn't tell me I would develop the disease; I might never get it. On top of genetic factors, people have to be educated to understand that there are environmental factors. My father died of a heart attack at a young age; my mother is in her eighties and still plays golf."

Personalised medicine, which allows everyone access to their genetic data, could be a reality within five years. Venter fears, however, that it is race-based medicine that drug companies see as the potential gold mine. As the pharmaceutical sector struggles to reinvent itself, Venter believes the industry could exert pressure to slow down research and prevent the development of affordable personalised medicine by giving precedence to race-based treatments that are more lucrative, but scientifically second-rate - or, to some, not scientific at all.

The controversy surrounding BiDil and the BRCA tests has raised questions about how such medication and diagnostic testing should be licensed. Doctors and legislators are now considering whether any new targeted drug should be tested on the population as a whole, or only on the sub-group at which it is aimed. Some scientists argue that whole-population testing will always be required to account for adverse drug reaction and off-prescription use (despite the fact that, prior to BiDil, more than 80 per cent of the subjects of clinical trials were white, middle-aged males).

Once such a drug is licensed for a specific racial group, what criteria will be used to determine who falls into that remit? Skin colour and self-identification have proved poor markers for determining a genetic response. For many years, black Americans believed racism held back research into diseases that predominantly affected their community. Now some believe the results can be exploitative, and have stopped taking part in clinical trials. Genetic sequencing will raise different issues in the UK. "I could see that we could have a genetic equivalent of the postcode lottery, with certain groups receiving treatment and others being denied," says Richard Tutton of Lancaster University.

Tutton believes the reaction of the medical community to genetic technology will be key: "In Britain, most people would have to utilise this information through the NHS. A big question will be how GPs respond. For some conditions, like hypertension, they prefer family history. There is a lot of resistance to genetically targeted medicine from doctors; it takes matters out of their hands."

The potential of genomic medicine is beyond doubt. "Genomic sequencing will dramatically improve the quality of medicine," Venter says, adding that cutting adverse drug reactions, a leading cause of death in the US and the UK, would be a major benefit. While defending the advances made by scientists, he is in no doubt about the hazards - misunderstanding and exploitation of data could lead to far greater inequality. "People will over-interpret data and act out sci-fi scenarios in their lives. To me that is frightening. We will go through a disturbing period."

But while Venter agonises over the misinterpretation of data, others suggest he is naive. Reanne Frank, a sociologist at Harvard, argues that "science is always a product of culture" and scientists who believe otherwise are dangerously deluded in believing their work can exist in a vacuum. As genome sequencing becomes more widely available, personalised medicine will be the arena where scientific advances and race-based identity politics meet.



  1. I was quoted in the article, it is right about the Havasupai Tribes situation with the Arizona Board of Regents.., they should have immediatly recognized the injustice but have thus far continued to ignore us, we only wanted an apology. My grandmother never saw justice, she never got to get on the stand to tell how they've degraded and defiled her persona, her beliefs, her culture and her hope in a cure for the children who now suffer from diabetes. Rest In Peace Grandma, Caroline Putesoy & Mark Putesoy - MAY YOU HAVE FOUND HARMONY IN YOUR SOUL. ekiss  

    Eva Kissoon
    Dec 16th 2009
  2. race-based medicine  

    Jul 11th 2012

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