A birthday box

This year, I received an unusual birthday gift of a small, possible Pandora’s box that seemed simple and innocuous with bright rainbow-like stripes against crisp, white cardboard.

Yet, as the sunshine peeked in through the windows, it made me spit early one morning. Reluctantly, but not with disgust, into a slim plastic tube.

Knowing my passion for the sciences, and insatiable curiosity about history and everything else, a few weeks ago, my two conspiratorial children presented me with an irresistible at-home genetic testing kit, a direct-to-consumer service that seemed inconceivable at the turn of the century. What was once an expensive novelty of the most sensitive of profiling has exploded into a lucrative and booming industry that remains largely unregulated, with dozens of choices being promoted in the United States of America (USA) alone.

Rapid advances in technology, an immensely invaluable database from a still enraptured market of many trusting millions, and the good old cutthroat competition of cash-Cadillac-driven capitalism, have seen attractive prices that even a pair of young, unemployed university students, with an always indulgent father, can afford.  Critics worry about the implications for privacy and the future. They argue that the real goal of such firms is to own, hoard and sell the troves or “biobanks” of prized individual and comprehensive group-aligned data that can reveal nearly anything genetic and secret about a person ranging from their earliest and most recent ancestors, the colour of their eyes, the size of their big toe, and whether they are likely to manage a side split, drop dead from a heart attack, cancer or diabetes, to a taste preference for coffee, “carille”/bitter gourd, honey dew, cantaloupe or watermelon.

As my children know, with the landmark 2005 Genographic Project by the National Geographic Society (NGS) and its televised launch, I became fascinated by the anthropological study, or the science of humans and their behaviour; and secondly, genetics, or the branch of biology that looks at genes, the basic unit of heredity. Genes are in turn made up of DNA, the abbreviation for deoxyribonucleic acid, the long molecule composed of two chains that coil around each other, carrying unique genetic instructions in every cell, that makes each of us who we are. Aiming to map historical migration patterns by collecting and analysing DNA samples across the world, the NGS scheme collaborated with scientists and universities to examine the information submitted by over one million individuals, from more than 140 countries, through the innovative “Geno” Ancestry kits.

The famous three-dimensional double helix of life was confirmed by American biologist James Watson and English physicist Francis Crick in 1953, who built on the outstanding work of several early pioneers including the Swiss chemist Friedrich Miescher. Miescher had unknowingly discovered DNA nearly a century earlier, in white blood cells calling it “nucelin.” Most DNA is in the cell nucleus, formed into tell-tale thread-like shapes called chromosomes. Each chromosome comprises DNA tightly coiled many times around proteins but a small hereditary amount lingers in the mitochondria as mitochondrial DNA or mtDNA. Mitochondria are cellular structures that convert the energy from food.

 The information in DNA is stored as a distinct code composed of four chemical bases termed adenine (A), guanine (G), cytosine (C), and thymine (T). Human DNA consists of some 3 billion bases, over 99 percent of which is the same in all people. Like letters of an alphabet form words and sentences, the order or sequence of these bases in the less than remaining one percent determines our characteristics and features. Every person has two copies of each gene, one inherited from each parent. In humans, each cell normally contains 23 pairs of chromosomes, for a total of 46 with 22 of these pairs, dubbed autosomes, the same in males and females. The 23rd pair differs, and it is these sex chromosomes that make us female, with two copies of the X chromosome, or male with one X and one Y chromosome.

We know that humans have between 20,000 and 25,000 genes, thanks to the largest collaborative international scientific research programme funded by Government and groups, the Human Genome Project (HGP) that set out to identify and map all the genes of the human genome, a daunting task. This first human genome sequence completed in April 2003, took 13 years and cost around US$3B or US$5B today.

Switching to a different processing platform, National Geographic went with the private company Helix which charged extra for deep sequencing outside of summarised profiles, including regional and ethnic ancestry and genius matches. Presumably, falling sales and an ever-expanding crowd of savvy rivals with cheaper prices and better user-friendly interfaces forced NGS to end the public participation phase from May 31 last, meaning the kits will no longer be sold on the site, although previous customers will be permitted to access test results, until the end of 2020.

According to Greek mythology, the controversial, pretty Pandora was said to be the first woman created on the instructions of the vengeful King of the Gods, Zeus. In 2500-year-old verses written by the poet Hesiod, Zeus was angered by the theft of fire by the Titan hero, Prometheus, who had showed pity for poor, cold and hungry humanity enabling great advancements in knowledge and civilisation. Not content with sentencing the champion of mankind to eternal torment, Zeus the zealot decided to further rebalance the odds through Pandora, slyly warning her to not ever open a special last container, but of course natural female inquisitiveness prevailed.

In the popular misogynistic interpretation, she was viewed as a “beautiful evil” whose descendants would forever punish humans, while strong feminist narratives disagree. Originally, Pandora carried a symbolic earthen storage jar, “pithos” brimming with “burdensome toil,” sickness, deadly diseases and other horrors, instead of hearty red wine, fine olive oil and nutritious whole grains. The word was mistranslated into Latin as “pyxis” or “box” in the 16th century prompting the enduring phrase and all the associated premonition, “to open a Pandora’s box.” Her “bad girl” reputation into the Renaissance, would inspire prominent dramatists and leading artists to reinterpret the story sympathetically and portray her image in powerful works well into the last two centuries.

Pandora in this case may be the brain behind my little gift box, the American entrepreneur, Anne E. Wojcicki, the wealthy Chief Executive Officer of the personal genomics company and biotechnology powerhouse 23andMe, based in Mountain View, California, which she co-founded in 2006. It is named for the human cell’s 23 pairs of chromosomes. Wojcicki, the youngest of three remarkable daughters, popularised the personal genome test kit awarded “Invention of the Year” by Time magazine in 2008. She was formerly married to Sergei Brin, the founder of Google, which invested US$3.9 billion in the start-up. Last year, GlaxoSmithKline purchased a US$300 million stake in the company, allowing the pharmaceutical giant to use 23andMe’s treasure house of genetic data to develop new drugs and raising new privacy concerns for consumers.

Weighing my options, I decided to go ahead with mailing my test kit. As Pandora reminded us, only Hope remained under the lip of the jar and did not fly away as she replaced the lid.

ID is certain that her “daddy is her daddy” and her children’s father is their “daddy” and unlike the song by the shocked calypsonian Sir Lancelot, there will be no “shame and scandal in de family” with any unexpected results of the US$199 health and ancestry kit.