The gravity of the consequences of consanguineous marriages needs to be understood by every segment of life, including the media, Professor Muhammad Saeed Quraishy

Karachi: Vice-Chancellor of Dow University of Health Sciences Professor Muhammad Saeed Quraishy has said that the highest rate of consanguineous marriages in the world is in Pakistan, with a rate of approximately 70%. He said that the gravity of this extremely important issue for future generations is not understood in our society.VC DUHS said that the importance of this matter needs to be understood by every segment of life, including the media.He made these remarks while addressing the session titled 'Genetics Today and Tomorrow' as the patron at the Winter Meeting 2024 of the Association of Physicians of Pakistani Descent of North America (APPNA), held at Muin Hall of Dow Medical College. Assistant Professor, Clinical Genetics DUHS Dr.Misbah Hanif, moderated the session, while Professor of Pathology from the USA Dr. Rizwan Naeem and Certified Genetic Counselor from Texas DMyla Ashfaq discussed genetic disorders and the related issues in Pakistan. On this Dow University's Registrar Dr. Ashar Afaq, Principal of Dow Medical College Professor Saba Sohail, President of APPNA Dr. Asif Mohiuddin, Chairperson of APPNA Winter Meeting Dr. Saeed Sabir, APPNA Focal Person from Dow University Professor Dr. Naseem Ahmed, and Chairperson of APPNA Young Physicians Committee Dr. Muhammad Siddique Khurram were present. Professor Muhammad Saeed Quraishy stated that every third child in Pakistan suffers from some form of genetic disorder, highlighting the need to understand the gravity of this issue. He said that in this regard, Dow University is the first medical university where genetics is being taught to MBBS students. Addressing the session, Assistant Professor Dr. Misbah Hanif stated that genetic clinic facilities are being provided at Dow University, and Dow University has also started teaching the subject of Clinical Genetics to MBBS students. She said that the purpose of teaching is to raise awareness and understanding about genetic disorders and to prepare future doctors to tackle this important issue. Genetic expert Myla Ashfaq talked about medical genetics, screening, the diagnosis of genetic disorders, and genetic counseling. She explained that a genetic counselor works on assessing genetic concerns, providing information about genetic conditions, determining family history, discussing genetic testing, and offering psychosocial support. She said that a geneticist also works on all these aspects, provides treatment, physical exam and ordering testing. Genetic expert Myla Ashfaq also discussed a case of a family from Karachi living in Texas, whose son faced microcephaly (a condition where the head size is smaller compared to the body) and other disorders due to consanguineous marriage. She also referred to another case where, through counseling, the partners were advised to undergo genetic testing before marriage, leading them to reconsider their decision to protect future generations from genetic disorders. She emphasized that experts' role is to create awareness and understanding because the rate of cousin marriages in Pakistan is about 70%. It is very common in Pakistan and is considered a better option due to social benefits, including strengthening family ties. Genetic Counsellor Myla Ashfaq mentioned that the most common single-gene disorder in Pakistan is thalassemia. She said that 8 of 100 Pakistanis are carriers of beta-thalassemia. She said that each year, there are more than 4000 new affected births and every 1-4 per 1000 infants have thalassemia .She highlighted the benefits of genetic diagnosis at embryo, fetus, infant,child and adult stage. She pointed out that genetic disorders are prevalent in Pakistan, and their diagnosis is crucial, requiring awareness and education to enable informed decision making. She said that genetic clinics, genetic counseling, and genetic testing need to become an integral parts of the healthcare system in Pakistan. Later, Professor Dr. Rizwan Naeem highlighted the role of the Pakistan Society of Medical Genetics and Genomics. He discussed reducing the burden of autosomal recessive disorders in Pakistan and the role of genomics and personalized medicine. He also mentioned the shortage of genetic specialists in Pakistan. He said that if we look at the statistics, the number of clinical geneticists is very low, with only one clinical geneticist at Dow. Therefore, incorporating this subject into the MBBS curriculum at Dow is a welcoming to assist doctors in diagnosing genetic disorders. He further stated that recessive diseases are also caused by regional factors besides marriages within families. He said that every second or third child in Pakistan suffers from some genetic disorder, and many families have a mentally retarded individual, hence it is crucial to understand the importance of this issue.Later, addressing the meeting, APPNA President Dr. Asif Mohiuddin outlined the vision behind the establishment of APPNA and the guidance provided to medical students seeking higher education in the USA and other countries. He said that they aim to ensure that students who wish to specialize abroad are provided with complete information and face no difficulties while studying overseas. Earlier at the APPNA Winter Meeting 2024, guidelines were provided to students for approach to US Match, visa advocacy, pursuing a medical career in Canada. There were oral abstract presentations and a poster symposium too. Additionally, Dow Medical College student Javeria Khan was awarded a $1,000 USMLE fee scholarship, while Yusra Mashkoor received a cash prize of Rs. 50,000 for winning the Most Publications Award. The winners of the oral presentations were given prizes of $500, $300, and $200, 1^st, 2^nd and 3^rd positions respectively. At the end of the ceremony, APPNA honored Dow University's Registrar Ashar Afaq, Principal of Dow Medical College Professor Saba Sohail, and other organizers with shields. Also certificates were presented to students of Dow University in recognition of their efforts, who won various speech and poster competitions.