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