it's just that without Myriad, *no one* would know that having the BRCA1 gene was a precursor to breast cancer.
Are you ^!&%! kidding? Are people so bamboozled by the FUD of pharmaceutical companies that anyone who doesn't know the truth assumes that the big, nice company must have sunk a ton of time and money into finding this gene from scratch, and without them the gene would never have been found? The truth is very, very different, and this is why Myriad is so hated in the scientific community.
BRCA1 was discovered by Mary-Claire King, now a geneticist at the University of Washington, following over a decade of government-funded basic science work that started when she was a graduate student and then junior faculty at UC Berkeley. Back then genetics was hard work - not hard like today, *really* hard. When she started no one really believed that one could even find a gene for a trait that wasn't expressed 100%, it just seemed too complicated to pick one mutation out of a huge haystack when you had to allow for some people having the bad mutation yet having a normal phenotype. Remember this is before the human genome project, before automated sequencing; she even started before PCR. Just pinning the candidate gene down to one small region of one chromosome took over a decade of work by dozens of people.
As the process came towards fruition, they first narrowed the field to a small part of chromosome 17 (paper), then made a laborious map of the region of interest (paper), and then together with a group at the NIH, they identified the actual single gene we now know as BRCA1, sequenced it, and spelled out the mutations in it that caused breast cancer in the affected families (paper1, paper2). Notice that all of this was done completely in the public eye, with all of her lab's results published immediately so as to help other researchers advance the field with her. It was good science.
But wait, where's Myriad genetics so far? What's left to do? Didn't we already "discover" BRCA1? How could anyone patent it now? All good questions. The next thing to do was to make a copy of this gene, by itself, in a test tube. This would be preliminary work for all sorts of biochemical analysis. The act of copying a gene off of a chromosome onto a separate loop of DNA in a test tube is called "cloning". Cloning is still pretty hard even today, especially for long genes like BRCA1. It can take months, especially since you usually need to copy it in bits and then glue those bits together.
What Myriad understood, and perhaps Dr. King did not, is that a cloned gene (that loop in a test tube) is patentable because it's considered "artificial", even if it's a perfect copy of a natural sequence of DNA. Myriad jumped in at this point, threw their whole company into cloning the gene and then patenting it, and did it before Dr. King or anyone else realized they were in a race. Ironically, Dr. King's lab had probably already cloned it in pieces (usually a prerequisite to sequencing) but hadn't made a complete intact copy yet, and certainly hadn't filed any patents. Myriad did none of the prior work on BRCA1. They did not come up with the idea of hereditary breast cancer. They did not do the laborious work of mapping where BRCA1 might be. They did not pinpoint the gene that was BRCA1. They did not sequence it. They did not find the mutations in that gene that cause breast cancer. They just copied it into a test tube first, and filed a patent. They did not even publish their result, nor make it available to the scientific community. Given the publicly available knowledge, *anyone* in the genetics community could have done this, and a number did. It was pure grunt work. There was no insight, no great advancement involved. Many genes had been cloned before, the techniques were widely published. Once you knew the location and the sequence, cloning just took time. Myriad's only insight was appreciating that a patent lay at the end of that grunt work.
So that's the real story of BRCA1. Finding it was a triumph of government-funded university science, open and collaborative to a fault. Then Myriad swooped in with patent lawyers at the opportune moment to lock things up, close them off, and proceed to make money off the public's huge investment. It was a brilliant business move. But the result has only been to disrupt and delay the science and medicine and breast cancer.