Identifying the current status and future needs of clinical, educational, and laboratory genetics services in Pakistan: a web-based panel discussion

被引:6
作者
Ashfaq, Myla [1 ,2 ]
Ahmed, Syed A. [3 ]
Aziz-Rizvi, Rabia [4 ]
Hasan, Zahra [5 ]
Kirmani, Salman [6 ]
Munim, Shama [7 ]
Naeem, Rizwan [8 ]
Raza, Jamal [9 ]
Furqan, Aisha [10 ]
机构
[1] Univ Texas Hlth Sci Ctr Houston UTHlth Houston, Dept Pediat, Div Med Genet, Houston, TX 77030 USA
[2] Childrens Mem Hermann Hosp, Houston, TX 77030 USA
[3] Kaiser Permanente, Dept Genet, Riverside, CA USA
[4] Special Needs Pakistan, Karachi, Pakistan
[5] Aga Khan Univ, Dept Pathol & Lab Med, Karachi, Pakistan
[6] Aga Khan Univ, Dept Med & Pediat, Karachi, Pakistan
[7] Jinnah Med & Dent Univ, Dept Obstet & Gynecol, Karachi, Pakistan
[8] Albert Einstein Coll Med, Dept Pathol, New York, NY USA
[9] Natl Inst Child Hlth, Dept Pediat & Endocrinol, Karachi, Pakistan
[10] Natera Inc, Dept Oncol, San Carlos, CA USA
关键词
Pakistan; Karachi; Genetic counseling; Geneticists; Genetic testing; Genetics clinics; Pakistani Society of Medical Genetics and Genomics; PSMG; COUNSELING SERVICES;
D O I
10.1007/s12687-022-00615-x
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
While the prevalence of genetic disorders has been well documented in the Muslim-majority, low-socioeconomic country of Pakistan, the provision of medical genetic services remains limited and cost-prohibitive to the masses in the country. With the objective of identifying gaps in the provision of medical genetics services as perceived by the healthcare providers and the general public, the Pakistani Society of Medical Genetics and Genomics (PSMG) organized a needs assessment webinar on December 6, 2020, titled, "A Vibrant Discussion on the Current Status and Future Needs of Medical Genetic Services in Pakistan." The objectives of the webinar were (1) to explore the current availability of medical genetics services, (2) to identify areas in clinical genetics delivery models needed to improve the state of medical genetics in the country, and (3) to garner the interest in such provisions from the expert and lay audience. The webinar consisted of a moderator-led, structured interview of an expert panel including the following topics: (1) postgraduate clinical genetics and genetic counseling training programs, (2) medical genetics clinics and formal genetic counseling services), (3) clinical genetic testing and (4) patient support and advocacy groups. The webinar was followed by a short, web-based survey completed by 35 of the 60 attendees. The results of this survey indicated overwhelming support for establishing formal genetic counseling educational opportunities (91.6%) and increasing the availability of genetic testing (100%). This report further summarizes the opinions and recommendations of the panelists and the audience survey results.
引用
收藏
页码:71 / 80
页数:10
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