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Genetic Linkage

Non-PC Genetics Lingo

We are all people of color, except the Invisible Man and Woman.
I struggle to stay politically correct when updating my human genetics textbook. “Hemophiliac” became “person with hemophilia” and “victim” vanished several editions ago. In the current incarnation, “mentally retarded” became “intellectually disabled” after colleagues warned that any country other than the U.S. would reject it. But many sources still equate MR with ID, while others say MR is a subgroup of ID.

I’ve recently learned of several more terms that need changing so as not to offend a reader.

Consider race. I recently contributed a chapter on the human genome project to the upcoming second edition of Macmillan’s Encyclopedia of Race and Racism. The editor, Dr. Joseph L. Graves Jr., of North Carolina A&T State University and author of The Race Myth: Why We Pretend Race Exists in America, highlighted two terms.

#1 "People of color." With the exception of the invisible man, “All people have color, so it’s best to describe the socially-defined groups as specifically as possible,” wrote Dr. Graves. A new article in Genome Research uses the term "human pigmentation."

#2 "Mixed ancestry." Anyone other than an asexually reproducing organism is of mixed ancestry. That’s what meiosis does: it mixes up gene combinations.

Another banned word arose when Dr. Graves asked me to include the ill-fated Human Genome Diversity Project (HGDP) of the 1990s, in which mostly white researchers from privileged nations sought DNA from indigenous peoples – those who remain, today, in their geographical area of origin. Among many reasons why the project unnerved many peoples was that the researchers dubbed them "vanishing."

I met someone who’d encountered this reaction firsthand. Dr. Sheila van Holst Pellekaan, a Visiting Fellow at the School of Biotechnology and Biomolecular Sciences, University of New South Wales, Sydney had a poster at the International Congress of Human Genetics in Montreal in October 2011, which dealt with the feelings of Aborigines about having their DNA sampled.

When Australia was colonized in 1788, the Aborigines had already been there for 55,000 years, making them one of the oldest indigenous peoples outside of Africa, Dr. van Holst Pellekaan told me. "We had to tell them we had to take samples before they vanish."

It turned out that a blood sample wasn’t necessary. The aborigine genome was sequenced from a hair sample from a young man from 1920s donated to a museum,” said Dr. van Holst Pellekaan. She advised the researchers to seek consent from the man’s descendants, and they did. Even if the aborigines do vanish, their genome information will be preserved.

The final term I need to banish from my textbook is “orphan disease.” It has multiple meanings and offends some people who do not have parents, I discovered when researching my gene therapy book. Although the National Organization for Rare Disorders began in the U.S in 1983, passage of the Orphan Drug Act that same year led to the derivation of orphan disease from orphan drug. The goal of the act was to provide tax credits for clinical research and grants, and a 7-year period of exclusivity, to encourage drug development for rare (<200,000 patients in the US) conditions. The Rare Diseases Orphan Product Development Act of 2002 seems to have separated the two terms.

But then things get fuzzy, for the terms "orphan" and "rare" are not always interchangeable.

Many of the children who’ve had gene therapy have extremely rare diseases that are the opposite of orphans, serving as canaries-in-the-coal-mine for much more common diseases because their single-gene diseases are better understood.

The European Organization for Rare Diseases uses "orphan" disease to embrace both the rare and neglected, which includes tropical infectious diseases that are endemic in low-income populations in the developing world. And CheckOrphan includes rare, orphan, and neglected diseases.

It can be hard to dissect terms both literally and in the context of multiple meanings so as to be clear while not offending anyone. For the next edition of my textbook, I’ll be sure to remember that we all have color, none of us is pure, our illnesses (rare or neglected) don’t define us, and one person shouldn’t predict that another will disappear.




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