Today we learn that Rep. Robert Matsui of California has passed away. His case is illustrative of the challenges we face as our knowledge of genetics conflicts with our ideological views of how things should be.
CNN reports that “In recent months, he had been battling Myelodysplastic Syndrome, a rare bone marrow disorder.” Following the old journalistic practice of reporting only half the news, CNN neglects to inform us that Myelodysplastic Syndrome and related Aplastic Anemia are up to four times more likely to occur in persons of Asian descent compared to Caucasians: (For a sampling of other medical outcome differences see here, and here, and here.)
The incidence in children of East/South-east Asian descent (6.9/million/year) and South Asian (East Indian) descent (7.3/million/year) was higher than for those of White/mixed ethnic descent (1.7/million/year). There appeared to be no contribution by environmental factors. This study shows that Asian children have an increased incidence of severe aplastic anaemia possibly as a result of a genetic predisposition.
While the above study gave us a first order glimpse of racial disparity with respect to disease onset, Kyung A. Lee et al in their article Increased frequencies of glutathione S-transferase (GSTM1 and GSTT1) gene deletions in Korean patients with acquired aplastic anemia investigate genetic factors related to Aplastic Anemia and differing racial distributions:
The incidence of the GSTM1 and GSTT1 gene deletions differs among ethnic groups, and it is higher in Koreans. In our study with Korean subjects, the incidence of GSTT1 deletion in healthy controls was significantly higher (45.3%) compared to those of white Americans (20.4%), African Americans (21.8%), and Mexican Americans (9.7%). The frequency of GSTM1 gene deletion was also higher (60%) in Koreans than in whites (50%) and African Americans (33%).13 We consider that the relatively high incidence of aplastic anemia in Koreans could be explained by the ethnic difference shown in the prevalence of the homozygous deleted genotypes of GSTM1 and GSTT1.
Were Rep. Matsui’s physicians H-BD aware? We have no idea, but I certainly would seek out a physician who used my racial information as part of his diagnostic work-up in order to narrow the field of possible diseases. The combination of the knowledge gained from statistical variability of diseases across different groups combined with early diagnosis can lead to a more positive prognosis:
Professor Wang Yongcai of the second clinical college of Dalian Medical University used micronucleus assay and analysis of content of DNA, accurately predicted myelodysplastic syndrome (MDS) prior to the appearance of the malignant cells and a rapid diagnosis was made ahead of any clinical manifestations. This method can also be used as a prospective diagnostic parameter and theoretical basis for the conversion of MDS to preleukemia.
Such a test, used in conjuction with statistical profiling, would seem to be a positive step forward compared to the typical diagnosis of myelodysplastic syndrome:
Myelodysplastic syndrome (MDS) is characterized by ineffective and dysplastic hematopoiesis in one or more cell lines in the bone marrow. Cutaneous lesions of MDS are usually separated into specific lesions and nonspecific lesions, and whether atypical hematopoietic cells infiltrate the skin or not. Early diagnosis of specific cutaneous lesions of MDS is important, because these lesions can be the only clue to the diagnosis of MDS and may precede acute transformation.
We’ve all been inundated with the Blank Slate & Race Doesn’t Exist worldview but there is growing evidence that Human BioDiversity is starting to change physician protocols, and case in point, is this article published last week in the Atlanta Journal Constitution:
Something seemed odd with the families Dr. Nipavan Chiamvimonvat and Dr. Kathryn Glatter wanted to help.
The heart specialists at the University of California-Davis were curious about two Chinese-American mothers diagnosed with inherited Long QT syndrome, a dangerous heart ailment. Both had been labeled with a particular form of Long QT after taking a test that compared their genes to standards developed from a group of whites.
But their symptoms didn’t match their genetic diagnoses. Chiamvimonvat and Glatter decided to start a new study that included genes from Asian-Americans.
Their work revealed that the original diagnosis was flawed — and had put the women and their families through years of the wrong medical care.
The women did have Long QT, but not the form originally suspected. One of the women had two small sons, who had both been screened previously with the wrong test. The elder boy, thought to share his mother’s Long QT gene, had been taking heart medication for years. His younger brother, deemed healthy, wasn’t being treated.
But the new test showed that the older son did not have the condition at all, and didn’t need heart medication. Instead, the younger son had inherited his mother’s Long QT gene — and should have been treated long ago.
“It was chilling,” Glatter said. “I cannot stress how important it is to have accurate matches when you are dealing with genetic issues. You need to make sure you are comparing apples to apples and oranges to oranges.”
The UC-Davis finding reflects how broadly genetic medicine is influenced by ethnic differences.
That effect would seem to contradict other genetic findings. Scientists have repeatedly said there is no genetic basis for race — no distinguishing Asian, white or black gene.
Why, then, do groups show genetic differences?
The reason, scientists say, lies in the long periods of geographic isolation that mark much of human history.
Until relatively recently, groups of people lived far apart. That isolation encouraged certain genetic traits, not just external traits such as a particular skin color, but also internal traits, like cellular function. Now, genetic medicine is revealing just how much these internal traits can vary from group to group.
African-American women, for example, are known to suffer from more aggressive breast cancers. Doctors hope to reveal if these women have unique gene features.
“I really want to compare Africans, African-Americans and mixed-race women and see if there is a genetic profile,” said Dr. Denise Johnson, a breast cancer specialist at Stanford University Medical Center. “We didn’t have the tools before, but now we do.”
At UC-Davis, Glatter and Chiamvimonvat published their Long QT discovery in the Journal of Molecular and Cellular Cardiology this year. The families they studied are now receiving more appropriate heart care.
“One cannot assume that information from one group will fit all,” said Chiamvimonvat. “This is so important as this science goes forward.”
So while the Left hammers away at H-BD for ideological reasons, and puts patients lives at risk, the Right is blocking some innovative treatments involving stem cells. The future of stem cell based treatments is promising as this article about unrelated umbilical cord transplants for adults with Myelodysplastic Syndrome points out:
The probability of disease-free survival at 2 years was 76.2%. These results suggest that adult advanced MDS patients without suitable related or unrelated bone marrow donors should be considered as candidates for CBT.
Compare those results to the standard medical protocols and prognosis for Myelodysplastic Syndrome:
Younger MDS patients — those 50 years and younger — may be eligible for a bone marrow transplant, which has been found to be curative in about 25 percent of cases.
It should be noted that the innovative stem cell research was performed in Japan and the survival rates are unlikely to be as high in North America, for the simple race-related reason of GVHD (Graft Versus Host Disease) as the Japanese are a very homogenous population sharing many common genes and thus there is a recorded lessening of GVHD.
From the scientist’s perspective, the Japanese form a cluster in allele space. If you typed several hundred neutral loci from 20 Japanese and the same loci in 20 Nigerians, a computer could distinguish them with essentially 100% probability. From a less technical (and thus less exact) standpoint, you could think of this as the effect of Sailer’s “extremely extended family” definition of race. Reproductive and geographic isolation – the “extremely extended family” – produces heritable patterns of local variation. Technically speaking, this corresponds to nonzero local inbreeding (and thus nonzero F_st, etc.).
The key point here is that to distinguish ethnic groups you must look at more than locus at a time . If you look at just one locus, you can get bizarre constructs like Jared Diamond’s “lactose intolerant races”, which group people with different genome content together on the basis of their similarity at one locus. As an analogy, suppose you had a bunch of text documents from two categories: mathematical papers and New York Times articles. Suppose that you grouped them on the basis of whether the fifth word was a verb or a noun. That grouping would be incoherent because it was not a global grouping based on document content. It is a fragile grouping that would probably not distinguish well between the math papers and the Times articles.
But if you allowed the use of a global grouping – a grouping on the basis of textual content – you could do a much better job of automatic classification of document type. See here for related work.
Point: you need to look at the whole genome, particularly the correlation structure of the genome. Returning to our text example, this would mean comparing sentences rather than individual words. If you saw a word like “have”, you would not know whether it was from the math paper or the Times article. But if you saw a sentence like “Square matrices without full rank have at least one zero eigenvalue”, you’d know it came from a math paper rather than a Times article.
The Hapmap is now allowing us to look at sentences rather than words.
With this analogy, we avoid the confusion that Lewontin has wrought and which has led some intelligent people to believe that a random Jew is more related to a random Pygmy than to another person of Jewish descent. If that was the reality of race then the lowered incidence of GVHB amongst Japanese couldn’t be explained from a Lewontinite worldview.
Our ever increasing knowledge of genetics and human biodiversity will challenge the worldviews of both the Left and the Right, but the good that will result from this knowledge will directly aid the medical treatment of people’s from all parts of the world.
Addendum: In reference to the article on Long QT syndrome where it’s noted that the patients were diagnosed after taking a test that compared their genes to standards developed from a group of whites I thought it noteworthy to mention that if the Bush Administration does restrict US research to the 64 existing stem cell lines then similar problems will likely develop in the future:
Based on discussions with most of the 10 laboratories with approved cell lines, we have concluded that as many as 49 of the lines are from white couples. As Alan Robins, chief science officer for one of the labs, BresaGen Inc. in Athens, Ga., told us, “Although we do not know for certain the racial background of our donors, it is reasonable to assume they are from white couples.” About 15 of the lines, harvested at clinics in Singapore and India, are of South and East Asian parentage, we believe, based on those discussions. Posted by TangoMan at 08:58 PM