​The Best of the Recent Past:

Interview of the Professor of Pathology and Laboratory Medicine, Professor Aysha Habib Khan

​Recorded by Dr Syed Bilal Hashmi

​​​​Please share a brief journey/experience of establishing a Biochemical Genetics Laboratory?

Professor Aysha Habib Khan: I take pride in the 10 years I have invested in realization of BGL and have a great sense of gratitude when I look back. In 1995 after moving from paediatric residency to chemical pathology, I felt a major gap in the diagnostics of inborn errors of metabolism, this then became my passion to contribute towards this area  of  metabolic medicine. There  was a genuine need of Biochemical Genetic Laboratory (BGL) for the community and healthcare. Establishing BGL was not an easy task and consumed 10 extensive years after my post-graduation.Starting from advocacy down to planning and implementation and now, representing AKU and Pakistan in international forums are accomplishments that are difficult to describe and express. All I know is a strong foundation has been laid and now the entire BGL team including my technologists and faculty have got to give their best to reap fruits. Complete diagnostic setup will take its time but continuing in the

right direction and developing & training younger lot to take it forward with updated knowledge and latest technique is the need for future.

​What challenges did you face in establishing and leading the Biochemical genetics laboratory?

Furthermore, what were the success factors that helped you respond to these challenges?

Professor Aysha Habib Khan: As I said earlier, advocacy was the major challenge, which consumed significant time. Establishing a new specialty requires substantial resources, and with limited funds for entire hospital, it was not easy convincing decision makers  to invest on something very new. New in a sense that biochemical genetic diagnostics specialty did not existed in Pakistan, with no data to prove that inherited metabolic disorders exist in sufficient numbers to be of public importance. The good part was that related clinical fraternity was cognizant of the missing facility and therefore, supported this endeavor voice fully.My perseverance and focused approach to achieve genetic lab objective was the main factor in overcoming the challenge. Despite of non-availability of funds, always enhancing my knowledge and remaining abreast of the happening and advancements taking place in the field further strengthening my zeal to equip the lab with genetic diagnostic facilities.

Can you share any success story or “AHA Moment” where you felt very excited while making a diagnosis?

Professor Aysha Habib Khan: The AHA moment to me was also the first milestone for us, in diagnosing the first case with inherited metabolic disease in “real time’. It so happened that before our services were operationalized; we were approached by Dr Bushra Afroze for ​a patient admitted in  NICU for a clinical suspicion of a metabolic disorder and requested our support to determine the diagnosis. It was a weekend and on analysis it was identified to be a case of isovaleryl CO A dehydrogenase deficiency. Why I called it a milestone was with the reason that the lab team had  before operationalizing  got its first result tested, verified and communicated to the treating physician. Actual benefit was saving a precious neonate’s life, which otherwise would not have happened, unless the specimen was sent abroad for testing for verification. A heartening thank you note from Dr Bushra Afroze was not only a source of excitement for the team, but also a sense of accomplishment and a valuable contribution in the treatment of children, who were otherwise delayed for multiple reasons.

What contribution is the Biochemical genetics laboratory paying towards patient benefit?

Professor Aysha Habib Khan: Now that the lab is formally accredited by college of American Pathologist; the most important and valuable contribution is access and prompt diagnosis from within AKU, thus saving a lot of time and providing financial relief to the family. The second important factor is close interaction and trust between treating physician and pathologist.

What are the plans or vision for the next ten years?

Professor Aysha Habib  Khan:  We  started  small with just two equipments, but with a test menu that had maximum diagnostic yield. Now we are moving forward on optimizing and validating assays on HPLC and LCMSMS. With this, we will be able to expand our test menu and capture disorders that were not picked earlier. This would also provide opportunity to study the spectrum of diseases within Pakistan. We have also laid down infrastructure and standard operating procedures for newborn screening program at AKUH. We started with screening for congenital hypothyroidism and now moving to screening for congenital adrenal hyperplasia. We hope to expand it for expanded newborn screening once the assays are validated.We have focused on human resource capacity building to oversee the specialty. These include eight faculty members including myself and 12 technologists. Intention is to  train  more  faculty  and  technologist  to ensure that gap does not not arise at any stage. Our faculty is now leading from front and we are collaborating with various international organizations including Mayo Laboratory in US and Society of Study of Inborn Errors of Metabolism (SSIEM).At the same time, we have  worked  on  developing  the national capacity of physicians, pathologists and technologists across Pakistan through numerous conferences, continuing medical education, seminars, hands on workshops and  other  training  ventures. Our intentions is to contribute nationally, developing human resource  capacity  to  carryout diagnostics and interpretation of biochemical genetics data and facilitate families in all cities, regions and provinces of Pakistan. This is how we would be able to serve community at large in line with Chancellor’s vision. We hope to develop patient’s registries and support groups for raising awareness and education on genetic diseases for masses in future.

What advice will you give to the junior pathologist persuading career in the field of Biochemical genetics?

Professor Aysha Habib Khan: I would encourage participation from the seniors to nurture the juniors and for the  juniors and newcomers to take on this field with zeal and enthusiasm. Biochemical genetics will now grow at a faster pace in Pakistan and youngsters wishing to pursue a career in this specialty will have a very bright future. To get into this field, one must have analytical approach and research aptitude. A strong foundation has been laid by AKUH. Developing & training younger lot to take it forward with updated knowledge and latest technique is the need for future.