How do people engage in genetic research in Pakistan – and why? Since 2015, I have been studying the development of genetic research in Pakistan with this question at the core. I have followed genetic researchers as they approach and collect blood samples and other health related and personal information from families in different localities in Pakistan. Families, where multiple members have genetic conditions. Families who are struggling to even get by.

The collections are done in the context of international research collaborations and funded by laboratories in high-income countries. There is much at stake when research agendas, scientists working on the ground, and families dealing with genetic conditions meet – each with their own hopes and concerns. Early on in my research, I realized that a set of specific traits made Pakistani communities ‘relevant’ settings for studying genetics in a global context. When I attended conferences, did interviews, and read academic papers on genetics in Pakistan, the extensive access to families with genetic disorders was described as a ‘goldmine’ for research.

Due to cultural forms of kinship associated with consanguinity – over 60% of marriages in Pakistan are between first or second cousins – high levels of biological specificities in the form of genetic conditions are inherited across generations. However, referring to presumed high rates of genetic conditions in a country as a ‘goldmine’ can be subjugating language, particularly given the international context and colonial legacy of data extraction from vulnerable populations in the Global South. In most cases, ongoing genetic research does not have any direct benefit for people in Pakistan. Rather the results contribute to research agendas defined by research laboratories in the Global North, aiming to understand human biological differences and further the development of personalized medicine and more effective treatment in high income countries.

Researchers in Pakistan are working under a global structure of inequality in health and wealth, and unequal power relations between research stakeholders. Interestingly, I found that the ‘goldmine’ framing was also used by Pakistanis, almost like a strategy to attract researchers and international collaborators. I realized that global collaborations bring resources to Pakistan in other ways: Researchers get access to resourceful laboratories, advanced technologies and research opportunities that are not present or accessible in Pakistan – and they use this access in different forms of action to improve public health in their own local setting.

One example of this is the establishment of a prenatal screening service for thalassemia in the area where my research was conducted. The service consists of medical tests performed during pregnancy to detect thalassemia, and is not an element of the research. Rather, it is based on an urgent need in society. Thalassemia, which is rare in Europe, is common in Pakistan. A particular classification of thalassemia, beta-thalassemia major, is described as the most common genetic disorder in Pakistan with an estimated nine million carriers, while 40,000 children are registered as transfusion dependent and 5,000–9,000 children are born annually with the condition.

The research laboratory teamed up with a hospital department that had the clinical expertise to establish the screening service. They have successfully put in place a relevant medical service defined and handled purely by local researchers and clinicians against a backdrop of no available treatment options, restrictive abortion laws, and numerous logistical challenges. In this way, researchers are harnessing nation-building efforts.

I believe that there is insufficient focus in academic debates on such efforts to create local relevance from international genetic research collaborations. Medical genetics in low and middle income countries has to deal with different issues and challenges than in high-income countries. We need to talk about relevance if we wish to mobilize genetic research as a means for improving public health in countries grappling with large health disparities.

We also need to look closer at what happens in research encounters where families, dealing with severe genetic conditions, share their samples and health related data with researchers. One thing that is often highlighted in academic and societal debates in this context is the question of informed consent. Informed consent is an ethical procedure in research that has been discussed extensively, commonly with a set of default assumptions about information and how it should be provided. I wanted to know how regulatory ideals about information transfer made sense from the empirical vantage point of research participants in Pakistan. Not surprisingly, I found that information practices, needs and wishes relate to much more than consent practice.

The ideals of being able to control and audit information propagated by ethics policies are at odds with the local reality in Pakistan, in common with other research settings in the world. Across contexts, studies have shown that people do not seem to remember, use or recall specific information given in conjunction with the consent process: their choice of participation does not build on the information provided. However, I observed specificities related to the cultural and logistical context of data collection in Pakistan: Researchers would often travel far to get to families with specific genetic conditions, and because of this, families would rarely reject sharing their samples or other health information. Families enrolled in the genetic research often could not read and therefore they rarely received written standardized information introducing the genetic research and its purpose. Instead, various forms of alternative information traveled by word of mouth: From the researchers wanting to recruit research participants, information spread to local communities who heard about it through their friends, families, doctors, teachers, etc.

Many people stated that it was only the head of the family who was able to process the complex information about the research, the only one with “samajh”. When I would later talk to the head of family, often a male figure, he would frequently express many doubts about what the research was for. Few people articulated an understanding that they had participated in research. Many were hopeful that the researchers would help them with their condition through reports or treatment. They requested information on how to obtain treatment, diagnosis, or other forms of clarification about disease and family planning. They undeniably needed a basic health service infrastructure that could help answer their questions. Instead, they got researchers who did their best – at times failing – to counsel them and provide information about the lack of available treatment options. Despite this, families persistently invested hope in the research encounters.

While these insights might answer some of the questions about ‘how people are engaging in genetic research in Pakistan’, we need to also focus on a different type of question: How might it, or should it, be different? In my study, the grounding of medical genetics in Pakistan emerged out of the maneuvering efforts of researchers facing unmet medical and social needs and challenges in their communities. We need to consider whether this is a legitimate avenue for strengthening the healthcare sector in Pakistan and providing opportunities to increase knowledge, wealth and create access to care – or whether genetic research as it develops in Pakistan is reproducing and feeding off global and local inequalities. There are many questions. While we will probably never have a clear answer to most of them, it is of utmost importance to keep raising them.

A group of Karachi clinicians meet periodically to discuss issues related to healthcare. In a recent meeting, a troubled physician presented the case of a two year old child with deranged kidney functions seen in the clinic. In addition to other routine tests, blood samples were drawn from the patient and his parents (who were first cousins) for genetic screening. The parents were discovered to have a rare genetic trait which both had transmitted to the son leading to his disease. The father inquired about the cause of the child’s illness and the results of genetic tests were explained to both parents. They asked no questions and left with medicines prescribed for their son. Six weeks later the mother returned alone with the child and told the physician that her husband had divorced her after hearing the genetic results.

This case highlights one of the several fallouts that accompany the growing availability and use of genetic tests in our part of the world. These are not “routine” medical tests that provide data specific to a patient’s disease, considered as her/his private information. Genetic tests identify familial genetic traits, and improper disclosure of this “shared information” can lead to unanticipated results. Many clinicians who order genetic tests do not have the requisite knowledge and skills necessary for genetic counselling so that the potential for tragic consequences for others, especially the most vulnerable in the family, can be minimized. The possibility of this occurring is heightened due to myths, misunderstandings and biases among the general public about hereditary traits and transmission of diseases from parents to children.

The science of human genomics is complex and expanding exponentially. Genetic tests are a byproduct of the increased funding for research in this field often at the cost of important “traditional” research including in public health. These tests are promising tools but they are still evolving, and their potential for benefits versus harms to patients is under global debate. Physicians, competent as they may be in their own specialty, are not educated in this field in medical college nor are they exposed to it during postgraduate training. The increase in the number of genetic tests ordered is occurring in the absence of professionals (physicians and/or non-physicians) with requisite training in interpreting complex genetic findings and skills to counsel patients in making informed choices. Many physicians I meet are unaware that genetic counselling sessions should be initiated before ordering tests and must continue following the results, and that like any other clinical intervention, patients/families have the right to refuse to undergo these tests.

The Genetic Testing in Emerging Economies (GenTEE) Project (2013), a systematic survey of genetic services across eight countries in three continents, revealed that a majority of front line physicians lacked knowledge about the genetic basis of diseases, interpretation of genetic test results, and need for genetic counselling of patients. The number of certified genetic counsellors (non-physicians) ranged from 0.06 to 0.2 per million population (PMP) whereas the recommended ratio is 6-12 PMP. The suggested ratio for medical geneticists (physician specialists in genetic medicine) is 3-5 PMP. To the best of my knowledge Pakistan, with a population of well over 200 million, currently has only 3 or 4 medical geneticists.

The GenTEE survey also revealed that genetic tests conducted in emerging economy countries are beyond the reach of most patients as they are available almost exclusively in the private sector and are exorbitantly expensive. In Pakistan the cost of genetic tests related to breast cancer can range (in 2019, certainly more today) from US$160 to over US$200. According to a colleague in a large cancer hospital in the country, if these tests reveal that Herceptin, a drug that can control growth of cancer cells, is indicated, the cost of this treatment amounts to thousands of dollars affordable by only 1% of their patients.

Better understanding of the human genome can provide additional tools to clinicians who take care of patients. However a tool is only as good as the hand that wields it, the mind that guides it, and a heart capable of seeing beyond the biological certainties of disease. Prudent application of science in clinical practice should factor in ethical, social and other considerations to minimize harms to patients and families. Otherwise, to paraphrase Ralph Emerson, we run the risk of science in the saddle riding mankind rather than the other way around.

Join us for our upcoming CBEC Forum with a group of dedicated Pakistanis pediatric surgeons and cardiologists sharing their experiences in helping children with congenital heart diseases (CHD) in challenging circumstances in Iraq, Afghanistan and rural Pakistan.

The Forum will have two brief talks centering on the experience of this group in providing sophisticated cardiac services to children with CHD, rendered even more vulnerable due to local challenges.

1. Scope of CHD programs: Equity vs equality

      Dr. Babar Hasan – 10 minutes

Dr. Babar Hasan is an Associate Professor and a Consultant Pediatric Cardiologist at the Department of Pediatric and Child Health, Aga Khan University (AKU), Karachi. He completed his residency from Indiana University-Purdue University Indianapolis in the United States in 2006, followed by a fellowship in pediatric cardiology from Harvard Medical College. His research interests include pulmonary hypertension, quality improvement sciences, artificial intelligence and health equity among others.

2. Mission with double vision: Delusion, despair & deliverance

     Dr. Muneer Amanullah – 10 minutes

Dr. Muneer Amanullah is a Professor and Consultant Pediatric Cardiothoracic Surgeon at the Department of Cardiac Thoracic Surgery, Liaquat National Hospital, Karachi. After completing his residency in General Surgery in 2006 from Aga Khan University (AKU), Karachi, he pursued a fellowship in Cardiothoracic Surgery from Freeman Hospital in the United Kingdom. He also holds a fellowship in Pediatric and Congenital CTS. He has previously held the position of Associate Dean of Postgraduate Medical Education at AKU.

Panel discussion – 60 minutes

Panelists:

Dr. Nadeem Aslam is an Assistant Professor and Consultant Cardiologist at the Aga Khan University, Karachi.

Dr. Shazia Mohsin is an Assistant Professor and Director of Non-invasive Imaging and current Section Head of Pediatric Cardiology at Aga Khan University, Karachi

Moderated by Dr. Aamir Jafarey, CBEC-SIUT

This session will be conducted in a hybrid format, with a limited number of physical seats at CBEC. Those interested in attending the session in person are requested to register by emailing cbec.siut@gmail.com before May 16, 2022.

To attend online, please register on the Zoom link below:

https://us02web.zoom.us/meeting/register/tZAkdOGsqDgjE9LscmQ4uq5j4kM8mbc7WdrV

This session will also be live-streamed on our Facebook page.

Date: Saturday, May 21, 2022

Time: 2:30 pm to 4:00 pm PST

Location: CBEC-SIUT, Facebook Live / Zoom

Join us for our upcoming CBEC Forum titled “In the Bowels of Society: Reflections of a Police Surgeon from Karachi” on Saturday, March 12, 2022, at 3 pm, in which Dr Summaiya Syed Tariq will bring together the stark realities of medico-legal work interfacing with human suffering. Dr Tariq will discuss her experiences as a forensics specialist in dealing with cases of suicide, homicide, rape and domestic violence among others. Her session will bring up unique challenges in her field related to informed consent, privacy and confidentiality and stigma, among other areas.

Dr. Summaiya Syed Tariq is an Additional Police Surgeon at the Jinnah Postgraduate Medical Centre, Karachi. She did her MBBS from Dow University of Health Sciences (DUHS) in 1996, followed by a Diploma in Medical Jurisprudence (DMJ) from DUHS 2012. She is a member of the Parliamentary Committee for the Anti Rape Act 2021 with valuable contributions also made to the Sindh Medico-legal Reforms Committee. She also serves as Amicus Curiae on cases in various courts as and when required.

This session will be conducted in a hybrid format, with a limited number of physical seats at CBEC. Those interested in attending the session in person are requested to register by emailing cbec.siut@gmail.com before March 7, 2022. This session will also be live-streamed on our Facebook page.

To attend online, please register on the Zoom link below:

https://us02web.zoom.us/j/84237492057…

Date: Saturday, March 12, 2022
Timings: 3:00 pm to 4:30 pm PST
Location: CBEC-SIUT & Online (Facebook Live & Zoom)

#CBEC #SIUT #CBECForum #Hybrid #Webinar #ContemporaryEthics #Ethics #Society #Culture #PoliceSurgeon #Forensics #Karachi

This video is an extension of the article “Language and Bioethics” written by CBEC faculty member, Farid bin Masood. In the video, Farid discusses how our perceptions of the world are influenced by the languages we speak which are reciprocally shaped by our lived realities. He comments on the difficulties in translating a text from one language to another and points out that the evolution of bioethics is imbued with the cultural and social context of the time and space in which it originated.

In the context of bioethics, he points out the difficulties in teaching the notions often regarded as universal principles of bioethics in different cultures and languages. Issues of language and difficulties in translating some bioethics concepts are highlighted by excerpts from interviews with two other faculty members, (Ali Asghar Lanewala and Nida Wahid Bashir), who talk about their experience of teaching bioethics and discuss the importance of incorporating local language and culture into their teaching.

These are difficult times for all of us. Dealing with patients in busy clinics, complicated rounds and exhausting academic activities has made teaching bioethics no less important but more challenging.

Universities and institutes have begun to at least acknowledge the field of bioethics but on the ground, they still struggle to give it due space and importance in their existing medical curricula. “We do not have time for it in our course.” “Ethics is not an essential topic.”  It is astonishing to see that your colleagues and faculty somehow do not understand the importance of medical ethics teaching for undergraduate and postgraduate medical students.

 And then there is the issue of bioethics pedagogy. In the context of a teaching hospital, the question arises whether ethics should be taught alongside the practice of medicine or as an independent module. Then there is the question of how to teach – through interactive lectures or in a small group discussion? As a teacher,  implementing different modes of teaching into very different setups, from lecture halls to small groups, is challenging for me.  Another difficult question is how to assess students in exams, as content that is taught is generally examined in a systematic way. The pandemic has further complicated the scenario. Social distancing, virtual classrooms and inattentive students have made the fluid and philosophical concepts of ethics even more difficult to teach and understand.

Another challenge is not having enough trained bioethics teachers. The faculty teaching ethics at Ziauddin are clinicians with busy schedules, and also teachers of other medical disciplines.  I have been teaching ethics for 5 years now, while also teaching medicine and working as a busy clinician. At times, it is extremely difficult to manage everything but still, I go on. Despite the challenges, learning and teaching medical ethics has been the most satisfying experience of my life.

“It’s not faith that you need but rationality.” This sentence touches upon one of the central themes in Kazuo Ishiguro’s latest book, Klara and the Sun. Released on March 02, 2021 and longlisted for the Booker Prize, this book is an extension of some of the areas that the Nobel Prize winning writer has previously explored.

The current work, which can be regarded as science fiction, provides a glimpse of a dystopian future in which machines potentially replace human beings not merely for technical purposes but also social ones. Machines now possess the emotional capacity to become friends with human children, specifically those who have been genetically engineered to become more intelligent, or as the book terms it, have been ‘lifted’. This may seem far-fetched but the phenomenon of being ‘lifted’ has parallels in contemporary society: Just as better education for children today is connected to socio-economic status and increased opportunities in life, being ‘lifted’ in Ishiguro’s novel signals higher status and a better chance at life.

Klara, a robot engineered to be an Artificial Friend (AF), narrates the story and it is through her worldview that events unfold. Rather like Ishiguro’s narrators in other books – a butler in The Remains of the Day and a cloned human in Never Let Me Go – her narration brings to the fore the perspective of the ‘other’, making the reader see the world in unfamiliar ways.

A core aspect of the story is the question of what it means to be a person. AF Klara is purchased from a store as a ‘friend’ for a human child, Josie. It is through Klara that the reader learns about Josie’s strange and mysterious illness, attributed potentially to her being ‘lifted’. Through Klara’s eyes, we catch a glimpse of the conundrum that Josie’s mother experiences as she realizes the adverse consequences of ‘lifting’ her child, facing the possibility of Josie dying. But Klara, powered through solar energy, believes that she can save Josie by asking the Sun for magical help. Josie’s mother, however, has an additional motive for buying Klara. She wants Klara to learn every aspect of Josie so that when she dies, Klara can replace her in a new robotic body identical to Josie’s. This is where Ishiguro points his readers to a difficult question: Is it possible for science and technology to replicate an individual in entirety, to fully capture their true essence? As Josie’s father asks, “Do you believe in the human heart? I am speaking in the poetic sense…Something that makes each of us special and individual?”

Ishiguro closely connects issues of personhood and humanity to the contemporary fear that machines will replace human beings. A passerby remarks to Klara in a hostile fashion when she accompanies Josie to a mall, “First they take the jobs. Then they take the seats at the theatre.” Josie’s father is also forced to conclude, “That science has now proved beyond doubt there’s nothing so unique about my daughter, nothing there our modern tools can’t excavate, copy or transfer.”

Towards the end of the novel, Klara ruminates,“But however hard I tried, I believe now there would have remained something beyond my reach. It wasn’t inside Josie. It was inside those who loved her.” Klara reaches a conclusion about what it means to be human, but questions about her own potential personhood remain.

CBEC has been disseminating bioethics education for the past 17 years but we have never really focused on training people how to actually teach bioethics. This gap was highlighted in the research conducted by our faculty Bushra Shirazi in pursuit of her Masters in Health Professional Education degree. Shirazi was exploring the status of undergraduate bioethics education in medical colleges of Karachi and came to the realization that major impediments in actualizing bioethics education in medical colleges included the paucity of bioethics trained faculty and the challenge of teaching bioethics to different cohorts with different educational requirements.

The question of “how to teach bioethics” became the rationale for two Bioethics Pedagogy (BP) workshops run by CBEC faculty at the end of 2021. Applications were invited from our alumni and others who were involved in teaching bioethics at their institutions. The first BP workshop was offered in Karachi in November 2021 and was designed as a hybrid workshop, with 12 participants from Karachi and 12 online, from Kenya, Cameron, Singapore and from other cities of Pakistan. Based on small group work followed by actual teaching, the workshop provided hands-on practice in the use of videos, cases and interactive lectures to teach bioethics, for both onsite and online participants. Sessions were led by Bushra Shirazi and Shahid Shamim, both surgeons and medical educationists with formal bioethics training.

Beginning with lesson planning, the faculty provided an overview on how and where the three educational tools, videos, cases and interactive lectures, could be used optimally while teaching various bioethics topics. Participants were divided into three online and three onsite groups which worked on different modalities, developing lesson plans and conducting teaching sessions.

Our second BP workshop was organized for 12 selected applicants from Islamabad, Peshawar and Lahore and was an in-person event, designed as a full-time 4 day residential retreat in the picturesque setting of the Margalla hills beyond Islamabad. The retreat format allowed much more time for group work and fostered more effective teamwork. Several changes were brought into the structuring of the event based on the experiences and feedback from the first BP workshop in Karachi. The retreat format also allowed the faculty opportunities to explore non-conventional modalities of learning. These included a literary gathering after dinner on one of the workshop evenings, with faculty and participants contributing short stories and poetry that connected to ethics. On another evening students participated in a moral game that highlighted factors that influence ethical decision making, such as personal life experiences, social standing, gender, sexuality, and conduct.

Both BP workshops were very well received by the participants, and the faculty was left wondering why we had not initiated them years ago. With the experience of having conducted two BP workshops using different formats, we realize that there is a need for training opportunities which allow participants to engage with different strategies which can work with a variety of audiences – face to face, online and in the hybrid format. Not only can these interventions be a ‘stand alone’ feature, they can also be integrated on a regular basis into formal academic programs.