Multidisciplinary Conference Newborn Screening for Rare · 2019-02-21 · Aysha Habib Khan Chair,...
Transcript of Multidisciplinary Conference Newborn Screening for Rare · 2019-02-21 · Aysha Habib Khan Chair,...
Friday, March 1, 2019
Conference: 8:30 - 5:00 pm
Zeeval Hall, PC Hotel, Karachi
Organised by: Department of Pathology and Laboratory Medicine
Collaborating Departments/Society: Paediatrics and Child Health, AKU Karachi Pakistan Society of Chemical Pathologists (PSCP) International Federation of Clinical Chemistry and Laboratory Medicine (IFCC)
Organizing Committee:
Chair: Dr. Aysha Habib Khan
Co-Chair: Dr. Lena Jafri
Workshop Committee: Dr. Hafsa Majid & Dr. Sibtain Ahmed
Information: Department of Pathology & Laboratory Medicine Aga Khan University, Karachi, Pakistan Tel: +92 21 3486 1927 / 3486 4547
Multidisciplinary Conference
Newborn Screening for Rare
Disorders in Pakistan 1-2 March 2019
Members:
Dr. Salman Kirmani Dr. Sohail Salat
Dr. Bushra Afroze Dr. Khadija Humayun
Dr. Aamir Ijaz Dr. Muhammad Amir
Ms. Shamsha Punjwani Mr. Karim Tejani
Aysha Habib Khan
Chair, Organizing Committee
Newborn Screening for Rare Disorders in Pakistan
I welcome all the International and National participants to the 1st Conference on Newborn Screening of the Aga Khan University, Karachi on the occasion of world
rare disease day.
Newborn Screening Programs allow screening for inherited disorders just after birth that can cause severe illness or death unless detected and treated early before
significant and irreversible damage occurs. Programs has been demonstrated to save lives and prevent serious disability and represents a public health success.
A comprehensive Newborn screening system/program consist of education, screening (specimen collection, transportation, and testing), follow-up of abnormal and
unsatisfactory results, confirmatory testing and diagnosis, treatment and periodic outcome evaluation, quality assurance and program evaluation, validity of testing
systems, efficiency of follow-up and intervention, and assessments of long-term benefits to individuals, families, and society. Public awareness couples with
professional training and family education is also a part of the complete NBS system.
The criteria for inclusion of a test/disorder into a newborn screening program based on Wilson and Jungner Criteria needs critical evaluation before including the
diseases/conditions into a newborn screening program. Adequate safeguards and regulatory frameworks should be in place before that and the path to its successful
achievement that is to bringing to treatment those with previously undetected disease and avoiding harm to those persons not in need of treatment should be
determined. Currently there is a paradigm shift in choosing suitable criteria for disease inclusion in the newborn screening programs, as new technologies easily test
for more disorders without additional cost and new disease genes are being identified. The leading technology driving this change is the introduction of tandem mass
spectrometric methods for metabolite analysis.
The two main hurdles for newborn screening, affordability and access to health care, are even more pertinent when it comes to newborn screening. Several other
obstacles include incompetent healthcare system, lack of political will and a rudimentary health insurance that further complicate the delivery of appropriate care to
the masses. All of these hindrances collectively cause the majority of the 7 billion world population to either suffer from untreated manifestation of rare diseases or
put them at risk of suffering due to a lack of adequate diagnostic tool or non-availability of pharmacological treatment if need occurs.
Although newborn screening is an integral part of Public Health; efforts to initiate a national level newborn screening has remain in infancy and patchy and somewhat
a neglected segment in Pakistan in Public Health initiatives. Part of it is due to non-availability of diagnostic facilities
Despite undergoing major revolutions in the past years in the world, newborn screening has so far been neglected in Pakistan. The primary reason is non-availability
of the diagnostic facility, lack of expertise both in terms of human resource as well as equipment needed to perform the analysis. The equipment’s are not only
technically demanding but are very expensive. In addition, knowledge on the performance and interpretation of the 2nd tier testing and confirmatory diagnosis are
not completely available to date within Pakistan. Due to the lack of diagnostic facilities and absence of national registries for disease; prevalence of various inherited
diseases is also not known. Some of the disorders like beta thalassemia, G6PD, congenital hypothyroidism and Congenital Adrenal Hyperplasia are widely prevalent
in our society.
The focus of our efforts is on bridging the gap between the different stakeholders in healthcare by engaging them in dialogue and through education.
The goal of this conference is to understand these issues and come up with concrete steps that can be implemented within tight timeframes after the conference. A
conference is meaningless if it does not lead us to practical steps. We are particularly focusing to that end in this conference and want to see results in the coming
year.
One pre- and two post conference workshops have been incorporated in this conference for the same purpose. Furthermore, debates and sessions in this conference
have been designed with one objective in mind: To learn and analyze the steps that must be taken for a positive impact on recommending testing menu in Pakistan.
I am thankful to all the guests who have gathered here upon our invitation. I must also thank our collaborating partners and contributors, who have helped make this
event possible. Finally, I must congratulate the Organizing Committee for their efforts.
Aysha Habib Khan
MBBS; FCPS;
Associate Professor and Section Head Chemical Pathology
Aga Khan University, Karachi
Lena Jafri
Chair, Scientific Programme Committee
Newborn Screening for Rare Disorders in Pakistan
Dear Friends and Colleagues,
On behalf of Pakistan Society of Chemical Pathology and as Co-Chair Organizing Committee, I am very pleased to invite you to participate in this interesting and
‘rare’ conference “Newborn Screening for Rare Disorders in Pakistan” that will be held on the 1st March 2019.! Whether you work in a hospital, an academic
university, in private practice or in the diagnostics this Conference is the place to come.
Abstracts on rare diseases especially from young researchers are welcome for a ‘poster walk’.
This collegial conference will cover the scientific and technological aspects and challenges of Newborn Screening (NBS) in Pakistan. By introducing NBS,
international community has achieved a point where results in infant survival and the reduction of neonatal morality are being achieved. In this conference
international experts will share their experiences of establishing and executing NBS services. Moreover, local challenges and experiences of establishing NBS will
be shared by different speakers from our country for advocacy on testing menu in our region.
Pre and post conference highly interactive workshops have been organized with case studies and examples for discussions throughout.
We are confident that you will find the program a rich educational experience!
Lena Jafri
Co-Chair Organizing Committee
Assistant Professor, Section of Chemical Pathology
Department of Pathology & Laboratory Medicine
Programme
Date: Friday, March 1st, 2019
Time: 9:00-5:00 pm
Venue: Pearl Continental, KHI
Time Presenter/Facilitator Activity
8:30-9:00 Registration
9:00 – 9: 05 Recitation from Holy Quran
9:05- 9:10 Dr Farooq Ghani
Associate professor & Service Line Chief
Welcome Address
9:10-9:20 Dr Aysha Habib Khan
Associate Professor & Consultant Chemical Pathologist, AKU
Introduction to Conference, Overview of
Newborn Screening Program & Pakistan
Perspective
PLENARY SESSION
9:20 - 9:45
Dr Hussain Askree, MD, PhD, FACMG
Vice-President of Operations, Genomics Lab
Clinical Biochemical and Molecular Geneticist
Confirming a Positive Screen
9:45-10:00 Dr George Seyhoune
Chief Scientific Officer & Director Med Labs Reference
Laboratory
Experience of Introducing Newborn Screening:
Role of Public Private Partnership in Jordan
10:00-11:00 Launching of Newborn Screening for Congenital Hypothyroidism at AKUH.
Tea | Poster Viewing and Networking
SESSION I: NEWBORN SCREENING FOR ENDOCRINOPATHIES
11:00-11:15 Dr Farkhunda Ghafoor
Ex.PRO & In charge PHRC Centre NHRC
Shaikh Zayed Medical Complex, Lahore
Newborn Screening of Congenital
Hypothyroidism & Implications for a program
in Punjab
11:15-11:30 Dr Jamal Raza
Professor Pediatrics, Director NICH
Newborn Screening of Congenital
Hypothyroidism & Implications for a program
in Sind
11:30-11:45 Dr Hafsa Majid
Senior Instructor & Consultant Chemical Pathologist, AKU
Experience of Introducing Newborn Screening
Program for Congenital hypothyroidism At
AKUH
11:45 – 12:00 Dr Khadija Humayun
Associate Professor & Consultant Pediatrics, AKU
Managing an Infant with Positive Screen of
congenital hypothyroidism: Implications for
Early treatment
12:00-12:15 Dr Sibtain Ahmed
Senior Instructor & Consultant Chemical Pathologist
Overview of Congenital Adrenal Hyperplasia:
Evidence for Inclusion in Newborn Screening
Program
12:15-12:45 Panel Discussion: Way Forward for Endocrinopathies
Moderator: Salman Kirmani
12:45 – 2:00 Lunch, Networking, Poster Viewing and Prayer Beak
SESSION II: NEWBORN SCREENING FOR INHERITED METABOLIC DISEASES (IMDS) IN PAKISTAN
2:00-2:15 Dr Bushra Moiz
Professor Hematology, AKU
Evidence for Inclusion of G6PDd in Newborn
Screening Program in Pakistan
2:15-2:30 Dr Natasha Ali
Associate Professor & Consultant Hematologist, AKU
Evidence for Inclusion of Sickle Cell Anemia in
Newborn Screening in Pakistan
2:30-2:45 Col Zujaja Hina Haroon
Associate Professor & Consultant Chemical Pathologist, AFIP
Overview of Aminoacidopathies & Organic
Acidaemias: AFIP Experience
2:45-3:00 Dr Lena Jafri
Assistant Professor & Consultant Chemical Pathologist, AKU
Which IMDs to Include in NBS: Evidence for
Inclusion of Biotinidase & GALT
3:00 -3:30 Dr Bushra Afroze
Associate Professor & Consultant Paediatrics, AKU
Ways to Implement Newborn Screening
Program for Inherited Metabolic Diseases
3:30 - 4:00 Panel Discussion: Way Forward for Newborn Screening for Inherited Metabolic Diseases
Moderator: Dr Salman Kirmani
4:00 – 4:15 Newborn Screening: Where are we at the end of this meeting? Consensus Statement & Way Forward
4:15 -5:00
Closing Remarks
Award for Best Poster
Certificate Distribution to Presenters
Tea and networking
Post-Conference Workshops
Saturday March 2, 2019
Venue: Centre for Innovation in Medical Education (CIME)
Workshop 1: Approach to patients with Inherited metabolic disorders (IMD) - problem based learning
Faculty Lead: Dr Bushra Afroze
About the workshop:
This will be a half day flipped workshop activity for Paediatric consultants and trainees. The workshop will include a quiz to challenge participants’ thinking,
lectures covering the basics in inherited metabolic disorders. Participants will be challenged to solve cases throughout the workshop.
Learning Objectives of the workshop:
At the end of this workshop, participants will be able to:
1.Understand the basic concepts of IMD.
2.Apply understanding of various group of IMD.
3.Develop an evaluation plan for each group of IMD.
Time Activity
08:30 - 09:00 am Registration
09:00 - 09:05 am Tilawat & Ice Breaking Session
09:05 - 09:10 am Welcome Address
09:10 - 09:25 am Kahoot quiz-Pre test
09:25 - 10:10 am An overview of IMDs.
10:10 – 10:30 am Tea Break
10:30 – 10:50 am Interactive Group discussion – case 1
10:50 – 11:10 am Interactive Group discussion – case 2
11:10 – 11:30 am Interactive Group discussion – case 3
11:30 – 11:50 am Interactive Group discussion – case 4
11:50 – 12:10 am Interactive Group discussion – case 5
12:10 - 12:30 pm Interactive Group discussion – case 5
12:30 – 12:45 pm Kahoot quiz –Post test
12:45 - 01:00pm
Certificate Distribution to Presenters and
Feedback
Lunch & Networking
Workshop 2: Hands on Workshop on Organic Acid Testing
Director: Dr. Lena Jafri
Co-Director: Dr. Aysha Habib
Facilitators: Dr. Hafsa Majid, Dr. Sibtain Ahmed and Ms. Azeema Jamil
About the workshop:
This will be a half day flipped workshop activity for consultants and trainees working in diagnostics of inherited metabolic diseases (IMDs) patients. The
workshop will include a quiz to challenge participants’ thinking, lectures covering the basics in urine organic acid testing and chromatogram labelling and
interpretation. Case studies and examples will be discussed throughout.
Learning Objectives of the workshop:
At the end of this workshop, participants will be able to:
1. Understand the Clinical utility of organic acid testing in IMDs
2. Apply understanding of organic acid chromatography labelling and interpretation.
3. Differentiate IMD causes from non-IMD causes while interpreting urine organic acid.
Required Readings: Will be shared to participants a week before via email (Book chapter on UOA, and lab updates)
Time Activity
08:50-09:00 am Registration and distribution of teaching material
09:00 - 09:05 am Tilawat
09:05 - 09:10 am Welcome Address & Ice Breaking Session - Dr Aysha Habib
09:10 - 09:20 am Kahoot quiz-Pretest - Dr Lena Jafri
09:20 - 09:30 am An overview of urine organic acids from IMDs perspective - Dr Aysha Habib
09:30 - 09:40 am GC-MS and Application of Chromatography in Organic acids Testing - Dr Lena
Jafri
09:40 – 10:00 am Correct Identification of Organic Acids and Metabolites using the libraries – Dr
Hafsa Majid and Azeema Jamil
10:00 – 10:20 am Working Tea (Video of processing of samples at BGL AKU)
10:20 – 10:25 am Grouping and distribution of cases
10:25 – 10:55 am Flip Chart Activity 1: Labelling of Chromatograms
Facilitators: Dr Hafsa Majid and Azeema Jamil
10:55 – 11:30 am Group Presentations
11:30 – 12:00 am Small Group Activity 2: Case Studies Distribution
Facilitators: Dr Sibtain Ahmed and Dr Lena Jafri
12:00 – 12:45 am Group Presentations & Discussion (15 min each)
12:45 - 01:00 pm Kahoot quiz –Post-test – Dr Lena Jafri
01:00 - 01:15 pm Certificate Distribution to Presenters and Feedback
Lunch & Networking
Department of Pathology and Laboratory Medicine, Aga Khan University Karachi, Pakistan
Multidisciplinary Conference
Newborn Screening for Rare Disorders in Pakistan
1-2 March 2019