Dr. Anna RajabConsultant Clinical Geneticist

Ministry of HealthSultanate of Oman

How to define your goals?

SIMPLE!

LOOK AROUND FOR POPULATION NEEDS!!

SURVEYS!!

DOWN SYNDROME

RARE DISORDERS!!

•600 rare disorders were published in Omanies•Some Omani disorders have not been characterisedyet!!

Presenter

Presentation Notes

MCPH-5 locus

NEED FOR GENETIC TESTING FOR RARE DISORDERS!

AVAILABLE ABROAD!EXPENSIVE!!!COMPLEX TO ESTABLISH!!!

HARD TO JUSTIFY FOR JUSTFEW INDIVIDUALS!!!

Research and collaboration

•Platform for promoting international exchanges and strengthening cooperation in science and technology.• Excellent opportunities to get high quality technological advances•Gain the new ideas and directions through the communicate with international experts.

HOW YOU CHOOSE GOOD COLLABORATORS???

Trial &experiance

HOW TO GET SUPPORT FROM HEALTH PROVIDERS?

•STUDIES•SURVEYS• STATING COMMUNITY BENEFITS•CALCULATINGFINANCIAL BENEFITS OF THE SERVICE

HANDICAPPED CHILDREN Survey Marakaz Al- Wafa(2003-2004).

Hereditary causes are contributary in over 93% of children attending Centers for Handicapped children (Al-Wafa Centers) in Oman.

The remaining 7% of children had suffered road traffic accidents, had meningitis or have been born premature.

END-RESULT/BENEFITS OF GENETIC SERVICE:

SAVING HEALTH AND SOCIAL RESOURCES;

PREVENTION COSTS ARE 10% OF HEALTH EXPENDITURE IF THERE IS NO PREVENTION

Mission of Genetic Center

Provision of Genetic Services to Omani population

Application of Modern Genetic Technology to maintain high standard of medical care and improve health

GOALS

Satisfy the needs of Omanies for Genetic Services:•Prevention of genetic diseases•Prevention of familiar cancers• Improve Cancer care •Screening programmes (premarital, neonatal)•Increase population literacy of how to avoid genetic diseases

IDENTIFIING PRIORITIES

HEMOGLOBIN DISORDERS

•Sickle Cell Anaemia•Beta-Thalassaemia•G6PD deficiency

National PremaritalScreening for

Haemoglobin Disorders

BUILDING THE SERVICE…..What is IMPORTANT?

Premises?

SCIENTISTS!!!!!!!

CHOOSING SCIENTISTS !!!

•Educated•Hard working •Dedicated•Disciplined •Can offer accuracy andprecision•Capable of coping with high volume of work •Friendly, cooperative

GRADING STAFF PERFORMANCE:

-Serving population needs -Learning new technology-Offer Professional Training to newcomers-Involved in higher studies-Research

Laboratory No. 50171 EQA CEQA 2009 Blood

Year 2009 Spring

INDIVIDUAL LABORATORY REPORT

On line EQA Assessment

A. Case Assessment CASE SCENARIO RESULT

1 Case 1 mos 46,XY,r(18)(p11.3q23)[13]/46XY[17]

(EQA) 46,XY,r(18)(p11.3q23)[17]/46,XY[16]dn.ish r(18)(wcp18+,VIJyRM2102-,VIJyRM2050-)

2 Case 2 46,XY,inv(11)(q21q23)

(EQA) 46,XY,inv(11)(q21q24)

CA

SE

1

Scores Analytical 2.5 Written Description

2.5 Interpretative 2.0 Cost 267

Comments

Analytical Use of unnecessary tests exceeded cost limit. 0.5 penalty points.

Written Desc. The text of the report should give a full description of the karyotype including the number of chromosomes. 0.5 penalty points

Interpretative Mosaicism of any chromosome aberration may modify the phenotype. 0.5 penalty points. The future reproductive risk to child should be given. 0.5 penalty points

General No comments

CA

SE

2

Scores Analytical 2.5 Written Description

0.5 Interpretative 2.5 Cost 488

Comments

Analytical Use of unnecessary tests exceeded cost limit. 0.5 penalty points.

Written Desc.

ISCN error (see EQA example). 0.5 penalty points. The discussion of paracentric inversions in other chromosomes confuses the report and is unnecessary. 0.5 penalty points. The text of the report should give a full description of the karyotype including the number of chromosomes, the sex and the arms involved in the rearrangement. 1.5 penalty points

Interpretative Parental cytogenetic studies should be suggested. 0.5 penalty points

General No comments

General Comments:

No comments

B. General Comments and Conclusions Scheme Compliance: Yes

Laboratory No. 50171 EQA CEQA 2010 blood

Year 2010 Spring

INDIVIDUAL LABORATORY REPORT

On line EQA Assessment

A. Case Assessment CASE SCENARIO RESULT

1 Case 1 46.XY

(EQA) 46,XY,del(7)(q32q34)dn

2 Case 2 karyotype: 47,XY,+mar(14)/46,XY(10)FISH: 47,XY,+mar.ish der(11)(wcp11+)

(EQA) 47,XY,+mar[14]/46,XY[16].ish der(11)(wcp11-,D11Z1+)

CA

SE

1

Scores Analytical 0.0 Written Description

0.00 Interpretative 0.0 Cost 36

Comments

Analytical Critical analytical error; deletion of 7q missed. 3 penalty points

Written Desc. Critical analytical error, therefore the clerical accuracy is not marked.

Interpretative Critical analytical error; deletion of 7q missed. 3 penalty points

General No comments

CA

SE

2

Scores Analytical 3.0 Written Description

1.0 Interpretative 1.0 Cost 113

Comments

Analytical No comments

Written Desc. Major ISCN error. 1 penalty point. Professional guidelines not followed, written description disorganised and difficult to understand. 1 penalty point.

Interpretative

Prenatal diagnosis for future pregnancies, including UPD studies, should be recommended. 1 penalty point. The possibility that son has UPD11 was not considered. 0.5 penalty points. Follow up studies by array CGH should have been considered. 0.5 penalty points.

General No comments

General Comments:

No comments

B. General Comments and Conclusions Scheme Compliance: Yes

Recommendations: A review of the images from case 1 is advised.

Performance: 5.0 out of 18

Summary Statement: Poor performance

Mission of Genetic Center:

Provision of Genetic Services to Omani population

Application of Modern Genetic Technology to maintain high standard of medical care and improve health

DNA BANKS ATRACTION!!!

READ ABOUT ICELAND GENETICS

Establishment of the Oman Human Genomics Bank

There are an increasing number of diseases affecting Omani citizens such as Diabetes mellitus, cardiovascular diseases, hypertension, obesity, migraine and several forms of cancer which have a genetic component to the incidence and severity of these diseases. A human genomics bank which isolates and stores DNA and RNA from patients and families with these diseases is an invaluable resource in using genetic analysis to find more effective treatments for these diseases. This research proposal is a research capacity building project which will provide properly documented DNA and RNA from Oman families which can then be used to research a range of human diseases. This genomics bank will not only provide genomics materials for researchers in Oman, but also will facilitate collaborative research with international genomics laboratories.

COSTRAINS:•Insufficient number of trained staff •Shortage of Omanis with MD / PhD• Scarce budget for training• Shortage of budget for equipment and consumables•Shortage of laboratory space •Insufficient flexibility of the administrative system regarding new appliances, consumables and new posts

CHEBGLI - goat epsilon I beta-globin gene ATCCTGAGCATGTTTTTGTCCCTGTCACCATCTCACAATCCTTAACTAAT ACTAAAATGGTTTGAATAGAACTCCTTCCTAGTCTGATGCTTAGCTACAC TCCATGGATCATTCTGGAAGAAGGAGAATGGGAGAGATGGATGCCATCGT GGAGGATGAGAGGGGAAGAACAGAGGGTGAAAATGGGGAATGAGTGGAAA ATAATGTTGAGGATACAGGAGGACCTAACAAACGAAAGATGTCTCAGGAA CCAACAGGTTATCATACACTCAATATACATCTCCTTGCTGACCATCAGCT GACCTGACTCCACCCCTGAGGGACACAGCCTAACCTTGACCAATGACTTC AAAGGACAAGGGGGAGCAAGGGGGCAGAAGTTCAGCAGTAAAGAATAAAA GGCCACAGCATCCAGCAGCAGCACAGACTTGCTTCTGATGCTTCTGTGAT CACCTGTAAGCTCCACGACTTGACATCATGGTGCATTTTACTGCCGAGGA GAAGGCTGCTATCACTGGCCTGTGGGGCAAAGTCAATGTGGAAGAGGCTG GAGGCGAGGCTCTGGGCAGGTAGAAAGTGGACTTCATGGGGGAGGATGGT GAATATGAGCCTGGCAAATCGGCCAGAAAAATTCTTCAAAAATCTGAGTT GCTGATTTTCCATCTGCTATGTTTCCATCTCATAGGCTCCTGGTTGTCTA CCCCTGGACCCAGAGGTTCTTTGATAGCTTTGGCAACCTGTCCTCTGCCT CTGCCATAATGGGAAACCCCAAGGTCAAGGCCCACGGCAAGAAGGTGCTG ACCTCCTTTGGAGAAGCTATTAAGAATTTGGACAACCTCAAAGGTGCCTT CGCTAAGCTGAGTGAGCTGCACTGTGACAAGTTGCACGTGGATCCTGAGA ACTTCAGGGTGAGTTCAGGAAGTGTTCATGCGTTCCCTTTGGCTTTTTAC CTTGCAATAATAATGGAAGTTGAGTGTTTTATTGGAAAGACTAGAAAGAC CTCAGAAATCATAGATCAAACTAGGTGTTAGGAGGACAGACTTCCAGTGG GCATACCGAGCCCACTTGATTCAGGACTAGTGACATAAAGAGCTATGGGC AGCCTTACTGTGCATGCATGGCTAAGTCGCTTCAGGTGTCAGACTCTTTG TGACCCCATGGCTGTAGCCACCAGGTCCCTCTGTCCATGGGATTCTCCAG GCTAGGATACAGGTATGTGTTGCCATTTCTTTTTCCAGGGGATCTACCCA GCCCAAGGATCATATCTGTATCTCTTACATCTCCTTCAATAGCAGGCATG TTCTTTATCACTAGCACCATGATGAGCATCCATAAGTTTGCTTAAAAGTT TTCTGGAACTTCTGTCAGAACTGGATGTATTTACCCCAGAGAATATCAAA GAATAGCATATTTGTTCTGGGAGAAATGAAATCTGGCTTTTGAAAGAATA AGTCCAGTCTCTAGGAGGGAGAATTATCCTATGTGANTCCCGATGACTGA AGTTTAGGAAGATATTTGGGAGAATAATTATTAGCCAGATCATCTCAAAG