Information to clinicians

Suma Genomics aims to provide the most comprehensive clinical genomic testing for you and your patients. We believe a good genomic test report is a result of coordinated efforts of referring clinician and laboratory. We are committed to an excellent communication and interaction between the clinician and the laboratory. We believe these are vital for the good practice of genomic healthcare. In this regard, we would like you to note the following:

1. A good clinical genomic test begins with a good test prescription
At Suma Genomics, we believe in generating clinically useful reports for you and your patients. As you would agree, genomic technology has evolved at a rapid pace and is improving every day. Even in this era, good history and evaluation of signs and symptoms often make the testing and interpretation less cumbersome.

2. What information do we expect from you?
You can download our simple test request forms here. Though it is just one page, please feel free to use the back page or feel free to add more pages as necessary. Please provide a three generation pedigree, summary of symptoms and salient examination findings. We are happy to review complete medical records as well, if your patient consents to share them with us. You can send the additional details (photographs, copy of medical records, images, scans and test reports) by email or WhatsApp. We are happy to accept soft copies of test request forms. Please note to take appropriate consent from patients, if you are sharing their photographs with us.

3. Select an appropriate test
We presume you have selected an appropriate test for your patient from the list. In case you have any doubts or queries, do not hesitate to contact us. We understand each test is complex and has its own strengths and limitations. If you do not find a test that you require, please connect with us.

4. Pre-test counseling and consents
In the current era of genomic testing, it is essential all patients receive appropriate genetic counseling before a test. We would like to accept test requests only from adequately counseled patients. Please inform the yield of the test, possible outcomes of the test and its implications for medical care. It is essential to inform them that a test may not yield any actionable result often, despite you choosing the best available test and it may be negative too (no diagnosis is established). Please ensure that you have obtained an informed consent from the patient for the test.

5. Post-test counseling
Suma Genomics would always send test results by electronic communication to you. If you need a printed copy, please let us know. We will not send the reports to patients or their relatives directly as we believe post-test counseling is essential for genomic tests.

6. Turnaround time
We strive to provide results in a timely manner. However biological and technical reasons might warrant additional testing, repeat testing or incomplete testing. We will keep you informed. Please inform your patients about turnaround time.

7. Our strengths
We are a team of clinically trained geneticists, scientists and bioinformatics experts. We try to integrate signs, symptoms, pedigree and genomic data from a clinical perspective. We are available on telephone and email for discussion of genetic tests and results with you (only clinicians).

8. Exome sequencing with Suma Genomics
We provide a comprehensive exome sequencing. We try to cover the entire coding region using Agilent Sure Select Clinical Research Exome version 2 capture kit (CREV2) and use our in-house pipeline for analysis. We perform Sanger validation and segregation analysis for all the possible variants before a final report is issued.

9. Analysis of parents and family members
We encourage including samples of parents and family members with appropriate consents from them as we believe this improves the accuracy of the test and quality of the test (reduces variants of unknown significance). There is no additional cost for this analysis.

10. Re-analysis
We are committed to provide update and revise our reports if you have additional clinical information in the course of time or you think our test results do not match the phenotype. Even at a later date, we will be happy to review the results with the intention of incorporating the latest scientific information to you and your patient. In such cases, do not hesitate to request us for re-analysis. We however do not undertake re-analysis on our own.

11. Secondary findings (previously known as incidental findings)
As of now, we do not provide secondary findings with our exome sequencing reports. We will be happy to provide you these, with a specific request from you, after obtaining an informed consent from the patient.

12. Carrier testing and testing of asymptomatic children
We do not offer testing asymptomatic children. We also do not screen couple for carrier status for autosomal recessive disorders. We however will provide cascade testing for autosomal recessive disorders (when a family member has a confirmed monogenic disorder).

13. Testing healthy individuals
Currently we do not provide genomic tests to find out ancestry or quantitative trait loci (that determine risks for common disorders).

14. Storage of data and DNA
We store the blood samples for three months, DNA samples for one year and exome data (vcf files) for one year. You might request their use as necessary.