GENETONOMICS – Well done Dr Ostrer – US Supreme Court delivers Important DNA Judgment

When Angelina Jolie announced recently that she had undergone an elective double mastectomy to prevent her significant risk of developing breast cancer her decision was based on the fact that she had been tested positive for mutations in the BRCA1 & BRAC2 cancer genes, cancer genes that had been discovered and patented by Myriad Genetics Inc., of Utah, USA.

The testing of a far greater number of people for these gene defects would save an enormous amount of women from the morbidity and mortality associated with breast and ovarian cancer (50-80% risk of breast cancer and 20-50% risk of ovarian with BRAC mutations) but it cannot be done routinely or at community level because the test is so prohibitively expensive (for my patients if I order the test for them privately it costs about €3000 per test). The reason for this exorbitant cost is that the testing, even at an international level, is completely monopolised by Myriad Genetics.

Myriad, directed by Nobel-prizewinning scientist and member of the board Walter Gilbert Ph.D., was founded in 1991 and in a ground breaking discoveries identified the exact location and composition of the BRAC1 and BRAC2 genes to Chromosome 17 and 13 of the human genome. Using this knowledge of location and nucleotide composition Myriad then developed testing for mutations, patented those tests and began offering testing and risk-profiling commercially.

Myriad defended their patents vigorously and in a specific instance blocked Genetic Diagnostic Laboratory of the University of Pennsylvania from offering the mutation test to the patients of Dr Harry Ostrer, then of the NYU School of Medicine but now the Professor of Pathology and Genetics and the Albert Einstein College of Medicine, NY.

Dr Ostrer objected to this application of patent power and with a number of associated patient and physician groups filed a lawsuit declaring Myriad’s patenting of part of the human genome to be invalid. The US District Court agreed with Ostrer et al. in 2009 but the Federal Court reversed the decision in 2011 and held for Myriad. In 2012 on appeal to the US Supreme Court, by a petition of certiorari, the Supreme Court vacated the Federal Court judgement and referred it back to the Federal Court on remand. This time the Federal Court, firstly recognised Dr Ostrer as the sole petitioner with standing, and then affirmed the original District Court decision.

The US Supreme Court had then, by virtue of the fact it had originally referred the case back to the Federal Court, to give a Writ of Certiorari to the reversed Federal Court judgement and it did so on June 13, 2013 (569 U.S. ____(2013) ) after presented arguments on April 13, 2013. In an opinion entirely concurred with by eight of the nine Supreme Court judges and delivered by Justice Thomas the Court held that naturally occurring DNA was not patentable and that scientific discovery did not mean exclusivity i.e the ‘Laws of nature, natural phenomena and abstract ideas are not patentable.” He concluded the opinion by stating, “We merely hold that genes and the information they encode are not eligible under §101 (US Patent Law) simply because they have been isolated from the surrounding genetic material.”

There was another very important aspect to the case particularly for future commercial exploitation of DNA. Thomas, J in delivering the opinion of the Court, in a telling obiter dicta, stated that if patents were to be applied to The Laws of Nature etc then that “would be at odds with the very point of patents, which exist to promote creation.” This obiter will remain very persuasive into the future to reign in exclusive commercial exploitation of genetic “discovery” enabling a greater ease of application and not a corporate stifling of it.

The GENETONOMIC derailment is welcomed.

I look forward to now being able to get the very important testing done for my patients at a much more economic and affordable rate.

Well done Dr Harry Ostrer!

    

Rihla (Journey 38): Inishbofin Island, West Coast of Ireland: PURPOSE AND PORPOISE

Rihla (The Journey) – was the short title of a 14th Century (1355 CE) book written in Fez by the Islamic legal scholar Ibn Jazayy al-Kalbi of Granada who recorded and then transcribed the dictated travelogue of the Tangerian, Ibn Battuta. The book’s full title was A Gift to Those who Contemplate the Wonders of Cities and the Marvels of Travelling and somehow the title of Ibn Jazayy's book captures the ethos of many of the city and country journeys I have been lucky to take in past years.

This rihla is about Inishbofin Island off the west coast of Ireland.

In April 664 King Oswiu of Northumbria, at the instigation of his son King Alhfrith of Deira and his wife Queen Eanfled of Bernica (from the 7^th century the former Brythonic kingdoms of Bernica or Bryneich and Deira made up the Anglo-Saxon Kingdom of Northumbria), called a Synod in Whitby to determine whether the Celtic (Ionian Gaelic) Church or Roman Church method of calculating the timing of Easter was to be the acceptable method in Northumbria.

This was to be a crucial test for Oswiu as his Kingdom straddled the orthodoxy divide in England between the Roman Rite as promulgated by Augustine from Canterbury (and Patrick in Ireland from Armagh) and the old rite of the Columban missionaries from the fading Celtic Church powerbase of Iona in the Gaelic (Scots) Kingdom of Dál Riata (a territory approximating roughly to modern day Argyll in Scotland). Representing the Celtic Church was Colmán, the Bishop of Lindisfarne since 661, the third bishop after the founder St. Aidan.

St Colmán's Journey with Irish and Saxon Monks 

from Lindisfarne to Inishbofin 664-666

Colmán was from the Conmaicne Mara (Connemara) dynasty in Connaught on the western side of Ireland and had been educated and ordained in Iona before transferring to Lindisfarne. When King Oswiu decided against the Celtic Church reckoning of Easter Colmán resigned his see and took his disciples (Irish and 30 Saxon monks) as well as the relics of St Aidan and part of the famous Lindisfarne scriptorium, and left first for Iona, where they stayed for two years, and then onwards to establish a new monastic base on Inishbofin Island off the coast of Connemara.

Iona Monastery c.1890 before restoration

To Colmán Inishbofin (Island of the White Cow) must have been very like Iona both in size (6km long by 2km wide) and geography and he must have had had great spiritual hopes for its future and perpetration of the Celtic Church traditions. This was not however to be the case as simmering tensions between his Irish and Saxon monks forced Colmán to uproot his Saxon disciples and found a new monastery at Magh Eó on the mainland in 668. St Colmán himself was to return to the island and he died there in 675.

Location of Inishbofin Island off the coast of Connemara

Colmán’s monastery was destroyed in 1334 by Edward II’s Justice of Ireland Sir John D’Arcy (founder of one of the famous town tribes of Galway) in revenge for the rebellion in Connemara sparked by the murder of William de Burgh, 3^rd Earl of Ulster in 1333. The historical association of Inishbofin with the Gaelic/ Dal Riada/ Iona Scottish resistance movement of Edward II’s nemesis William Wallace influenced this cultural destruction, a theme repeated throughout many armed conflicts in human history as a sort of 'cultural genocide'. It is the sort of 'tactical' destruction, currently happening in Syria, that the 1999 Second Protocol to the Hague Convention of 1954 for the Protection of Cultural Property in the Event of Armed Conflict was agreed upon to give enhanced protection to cultural historical sites in International Law (Ireland has not yet ratified the Convention) by defining five serious violations which are enough to establish individual criminal responsibility and by applying the Convention to both international and non-international armed conflicts.

There is a ruin of 14^th century chapel on the site of the monastery and cemetery and a current archaeological excavation to try and unearth the foundation of the original monastery.

The irony of Inishbofin is that at the entrance to the harbour there is an early 17^th Century barracks established by Cromwell to incarcerate Catholic priests (from specifically the Roman Rite tradition) for high treason under a parliamentary proclamation of 6 January 1653 which extended the 1585 English Act Against Jesuits and Seminarists (27 Elizabeth, Cap.2) to Ireland. I wonder if ever Colmán turned in his grave and smiled at their misfortune only a short distance from his Celtic Church retreat and his purpose for living.

There follows a series of pictures of Inishbofin Island:

Leaving Cleggan Harbour on mainland

Looking East towards Connemara

The New Pier

Inishbofin Harbour

Looking East towards the Twelve Bens past site

of St Colmáns Monastery.

It was 25 degrees in the shade and not a 'White Cow' in sight.

Site of St Colmán's Monastery

Dumhach Beach

My Grandson Leon and I

Looking West from Dumhach

Cromwell's Barracks to starboard of harbour entrance

Beacon at Gun Point at Harbour Entrance

 Eventide

 A pod of porpoises surfed the ferryboats waves 

as we made our way back to the mainland.

All life should have a 'porpoise' to experience the beauty of these moments.

Rihla (Journey 37): Ho Chi Minh City (Saigon), Vietnam: MURMURATIONS AND THE DECEIT OF COLOUR

Rihla (The Journey) – was the short title of a 14th Century (1355 CE) book written in Fez by the Islamic legal scholar Ibn Jazayy al-Kalbi of Granada who recorded and then transcribed the dictated travelogue of the Tangerian, Ibn Battuta. The book’s full title was A Gift to Those who Contemplate the Wonders of Cities and the Marvels of Travelling and somehow the title of Ibn Jazayy's book captures the ethos of many of the city and country journeys I have been lucky to take in past years.

This rihla is about Ho Chi Minh City, Vietnam.

I like the energy of Ho Chi Minh City, the former Saigon. Since the demise of COMECON, the Soviet Block equivalent to the EEC, in 1991 Vietnam has gradually but inexorably developed into a free market economy. It joined the World Trade Organisation in 2006 and it is forecasted that it will be the 35^th largest economy in the world by 2025. Vietnamese will eat anything as long it is cooked with care and the major difference in the culinary repertoire in the south since reunification is the establishment of dog-meat restaurants, a previous preserve of the north.

I was sitting in a café at the intersection of Nguyên Thi Nghîa and Lê Lai avenues in District 1 of Ho Chi Minh City at evening rush hour and it was easy to imagine that most of the city’s estimated 4 million motorbikes (all generically known as ‘hondas’) from a total population of 7.5 million people had descended at that point to disperse.

Whole families appear with children strapped in, or vendors with mountainous stacks piled perilously high, or girls in purple traditional costumes and personalised helmets, all with a purpose, a destination. Most move in straight lines but then suddenly some weave left, some right into gaps or directions you do not see but which open up and swallow them, disgorging on the other side.

I had been at the same intersection earlier that day at morning rush hour and the effect was the same. When I mentioned the chaos to a friend later, he agreed and suggested that when the lights go green it was like watching flocks of starlings expand and contract in the autumn sky not knowing where next they would head.

The sky-displays by flocks of starlings, their course and speed being dictated to by the movement of their immediate neighbour, are known collectively as murmurations and it is as apt a description for the behaviour and visual impact of Saigon motorbikes on the move as you can get.

Whenever I see a flock of starlings take to the sky I associate a colour with them and think of the purple patches that stain the walls and roof of our house most autumns from the sediment of blackberry-gorging and disgorging birds and as I sat drinking my strong and delicious Vietnamese coffee waiting, not wishing, for an accident that never came I watched the motorbike ‘murmurations’ and the colour orange came to mind: the notorious Agent Orange that the American military had tried to defoliate Vietnam with during the war but because of high contamination with 2,3,7,8-tetrachlorodibenzodoxin (TCDD), an extremely toxic dioxin compound, has left a teratogenetic human devastation in its wake.

Earlier in the afternoon I had visited the War Remnants Museum in central Ho Chi Minh City.

On your immediate left after you climb the steps to the foyer is a craft shop run by the orange tee-shirted mutated children of parents who were exposed to Agent Orange during the war. To the western eye the site-specific theatrical presentation appears a little gratuitous, and manipulated, but on stopping to talk to one of the participants, a 30 year-old man with no arms or legs, you suddenly become aware that the participants believe profoundly in trying to educate the public about the consequences of chemical warfare.

He told me that it was his father that had been exposed to the agent and not his mother and that his brother, who remained hidden behind the craft shop counter, was worse off because he was also without one eye. Thereafter the museum displays, the horrific reminders of war, remain entirely in context.

One of the upper floor sections of the museum dealt with the collected letters, photographs and posters from around the world of individuals, groups and nations who had protested against the Vietnam War and had expressed their solidarity with the Vietnamese people. There was nothing from Ireland that I could find but there was a picture of a anti-war protest group in Aleppo, Syria and given the circumstances in that city and Syria in general at present I found that image the most thought provoking.

On returning to Ireland I watched last week as President Obama declared that a ‘Red Line’ had been reached in the Syrian struggle and that the use of chemical weapons against its own citizenry, if proven, had created the necessity and rationale for international intervention in the country.

I thought back to Lê Lai avenue, to the ‘honda’ murmurations, and to the deceit of colour. 

Lê Lai was an early 15th-century Vietnamese general who in an act of bravery dressed himself up as his Emperor Lê Loi to deceive the invading Ming army, charged down a hill to his eventual capture and execution, but in doing so allowed the Emperor and the bulk of the Vietnamese army to escape to fight, and win another day.

In a more general optical deception colour is not really colour, by which I mean that if we were to say that ‘I have a red hat’, we automatically assume that the hat has an inherent property of redness contained within. But in fact it is the exact opposite. The hat only appears red because the material or pigment of the hat has absorbed all of the other colours of the spectrum excepting red. So in essence the inherent colour property of the hat is actually blue-green-yellow-indigo-purple-orange etc. etc and its redness is its default or deceit position.

Do not get me wrong. I think immediate intervention in Syria is entirely appropriate and warranted but any rationale based on a greater moral impunity by the US is a deceit of what has constituted a ‘red line’ in the past and is undermined by the US sanction and use of chemical agents against the Vietnamese in that war. Maybe the lessons have been learnt.

I wonder however what would have been thought if President Obama had said an ‘Orange Line’ had been breached.

Further Reading: http://humanrightsdoctorate.blogspot.ie/2013/04/chemical-weapons-is-it-crime.html