The large gap in posting at the beginning of October was due to the Southern African Society of Human Genetics (SASHG) 2013 conference and the associated Young Researchers’ Forum (YRF), the latter for students and postdocs. This saw me travelling north to Johannesburg for just under a week to see what was happening in the world of South African genetics and to present my own work at both the YRF and SASHG conference. There was far too much to go into detail for so I will just focus on a couple of highlights.
Arrival in JohannesburgI’ve only ever been in Johannesburg once before, interestingly enough also because of science. I came tie 34th (10th best score) in the country for a national science olympiad. Of the people with higher scores than me, I met two of them again at university. I had similar classes to one until the end of my undergraduate studies and the other until the end of my honours year. I never got a certificate for the Olympiad though, although I do have the shirt.
What was exciting this time was the chance to try out the Gautrain, our own high-speed train. I must say I was incredibly impressed. It’s very clean (R700 fine for eating or drinking in the station or on the train), punctual, gave a smooth ride and even looked good. If public transport were all like that, clean, efficient and safe, I’m sure more people would use it. In contrast, I’ve driven past the usual train stations in Cape Town. They are dirty, with people loitering around and graffiti on the walls. Then there are the taxis which drive like idiots and are never in good condition. Just a few weeks ago, I saw a taxi whose door had fallen off when it was opened.
Young Researchers’ Forum (YRF)The conference started with the YRF, held at WITS School of Public Health. This was particularly exciting for me as it was the first time that I was presenting at a conference. I had had an abstract accepted for the African Society of Human Genetics conference in Ghana earlier in the year but did not have enough funding to attend. I almost didn’t get funding for this trip either, but perhaps it’s best to focus on the positives.
We had the usual oral and poster presentations in the morning but in the afternoon we had a session on science communication, given by Marina Joubert of Southern Science. That was quite interesting, mentioning various ways to interact with non-scientists and we even got some short books on various science communication topics from Econnect. I found it very valuable, although I might have given more examples of scientists using the various channels of communication.
Right at the end came the prize giving. Although I didn’t win a prize myself, I was happy to see that every prize went to someone from UCT’s Division of Human Genetics. What was even more amusing was that two of the winners were not present at the time and so Lauren Watson went to receive both their prizes on their behalf before being called down a third time to receive her own prize!
1. Danielle Smith (UCT)
2. Marelize Swart (UCT)
1. Lauren Watson (UCT)
2. Naseeha Hassen (UCT)
South African Society of Human Genetics (SASHG) 2013The main conference was held at The Maslow hotel in Sandton. The venue itself was beautiful and I found the blue and green wall lighting in the conference room to be an stunning touch. The service was excellent and the food, delicious. Unfortunately, the hotel was way out of my price range, even with funding, and so I stayed in the nearby Town Lodge. It lacked a lot of The Maslow’s offerings but I did find it comfortable. The breakfast was tasty, the rooms were clean and the service was good. It being barely a block away from the conference venue was a decided bonus and, for the most part, I enjoyed my stay there.
For me, the YRF was a better conference to present at. I had two posters at the main SASHG conference, one of which I’d presented at the YRF, but only got a fraction of the comments that I’d received at the YRF. I think there were a few factors working against both me and the poster viewing in general. I assume it must have been an administrative oversight but I think I was the only delegate whose posters were not next to one another. As the poster viewing room was divided into three sections, I was unable to be at one poster and still see the second one. In addition, while the posters for the YRF were outside with the tea, at SASHG the posters were in a separate room away from the food. I’m pretty sure neither of those was helpful for generating interest.
The abstracts for both the poster and oral presentations are available online, so I’m not going to linger on those. Two particularly interesting talks were the talk on disorders of sexual development in Cameroon, presented by my supervisor as his student was not able to attend, and Jaysen Knezovich’s work suggesting that a father’s alcohol use could affect his offspring.There was one issue that came up that I found particularly disturbing. That was discussions on reporting “incidental findings” during whole genome sequencing. At times it’s necessary to sequence a patient’s entire genome, generating a huge amount of data, not all of which is relevant to why you originally chose to sequence. Some of that data, however, is medically important and the question comes up whether it should be reported or not.
The American College of Medical Genetics and Genomics (ACMG) recently released a set of recommendations that said, in contrast to their previous statement, that certain incidental findings must be reported regardless of whether the patient agrees or not! (I doubt the papers in this section are freely available.) Although there are other criticisms of the guidelines (such as here and here), my main problem with the guidelines is how they’ve casually dismissed patient autonomy.
We recognize that this may be seen to violate existing ethical norms regarding the patient’s autonomy and “right not to know” genetic risk information. However, in selecting a minimal list that is weighted toward conditions for which penetrance may be high and intervention may be possible, we felt that clinicians and laboratory personnel have a fiduciary duty to prevent harm by warning patients and their families about certain incidental findings and that this principle supersedes concerns about autonomy, just as it does in the reporting of incidental findings elsewhere in medical practice.
Whether it’s done elsewhere in medicine or not is no indication that it is right, and at least one of the critical papers does not agree that situations are analogous. Even if they were, patients should have to right to decide what tests or results they are given. It doesn’t matter whether they are bad decisions or not. If the patient is mentally sound then they are no one else’s decisions to make. It’s good to be concerned about others’ welfare but not to the point where you act against their wishes. Although characterised as “bordering on coercive” by one paper, a guideline that essentially says, “we will help you but only if you let us test whatever we want” is outright coercive.
Patient autonomy, and personal autonomy in other cases, is an extremely important concept for our society to function in an acceptable way. If, like the ACMG, we consider it’s okay to ignore personal autonomy if it is to prevent harm then I see no reason why one would wait until a patient willingly comes to be scanned. Consent becomes meaningless.
The final talk of the conference was by Valerie Corfield and concerned raising public awareness of genetics. It was an excellent and engaging talk, and that’s after spending the previous five days watching talks from morning to evening. She spoke about talking to people with various levels of scientific knowledge and showed a number of practical ways to demonstrate biological concepts. A number of these examples, as well as more general advice on science communication and educational workshops, is available in a pdf online.Although it wasn’t the final item on the agenda, the Gala Dinner contained the prize giving for SASHG. It was held at Turbine Hall, which looked absolutely amazing, with an aesthetic that combined an opulent and industrial feel. Personally, I found the food disappointing in comparison with what The Maslow had offered but they did make up for it by having three caricature artists working for free. I was only able to sit for one as the queues were quite long but I am more than satisfied with the result.
In terms of prizes, UCT’s Division of Human Genetics did well again, claiming half of the awards.
1. Andrew May (WITS)
2. Lauren Watson (UCT)
3. Tinashe Chikowore (University of Limpopo)
1. Careni Spencer (UCT)
2. Fiona Baine (UCT)
3. Megan Morris (WITS)
Return to Cape Town
I seem to have bad luck when I fly from Johannesburg to Cape Town. Admittedly I’ve only done it twice but, the first time, the flight was delayed as the plane’s brakes weren’t working and, this time, we hadn’t enough power to start the engines. It was sorted out quickly enough but it was a little disconcerting as some of the cabin lights seemed to short out fairly often the flight. On the other hand, I experienced a positive effect of struggling to get funding. Part of my flight costs were covered by my dad’s air miles, meaning that I was lucky enough to fly back business class. That experience was great. There were nice drinks and the food was much better than I’d had on my flight up. Unfortunately I don’t have the money to fly that way regularly so I suppose I had better savour it.
In short, the conference was amazing. The venues were all attractive, it was intellectually stimulating and also quite inspirational. There is so much more that I could write about but I think I will leave it to the other participants to tell their own stories. I’m very glad I went and can only hope that the next conference I attend is at least as good.