Friday, 14 November 2014

Case Study: Cardiomap for Type 2 Diabetes

by Sushma Patil

Introduction

Mr. Akshay (name changed), 28 years, came across an article regarding genetic testing for type 2 diabetes and approached Mapmygenome to know more about it. We scheduled a pre-test counseling for him, during which we collected his clinical history, diet and lifestyle preferences and detailed family history.

Findings from pre-test genetic counseling

Family History

Pedigree chart shows family history of diabetes on the maternal side. Mother, 2 maternal uncles, and maternal grandparents had diabetes. Grandfather died of diabetes-related complications.
Pedigree chart shows family history of diabetes on the maternal side. Mother, 2 maternal uncles, and maternal grandparents had diabetes. Grandfather died of diabetes-related complications.

Diet & Lifestyle Preferences

Diet and lifestyle information collected from a questionnaire


Genetic Testing

Genetic counselor recommended Cardiomap.
Cardiomap offers genomics-based predictive risk assessment and management panel for cardiovascular diseases and diabetes. This test includes the risk for various heart diseases and diabetes, associated factors and lifestyle factors, as well as drug responses and nutrition and fitness recommendations.

Report Findings

After clarifying all his doubts, he underwent genetic testing. Some of the findings are:

Condition/Trait
Inference
Type 2 Diabetes
High risk
Heart Failure
High risk
Adiponectin Levels
Likely to be low
Homocysteine levels
Likely to be high
Response to metformin
Positive response likely

Posttest Genetic Counseling

During the posttest counseling, one of the major concern which he had was that now he will definitely have diabetes in future. This concern was addressed by the counselor by explaining that it was just a risk profile. That does not mean he will definitely get diabetes. The good part about diabetes is that proper exercise and diet will keep it at bay.

Taking into consideration his personal information, family history and genetic report, the genetic counselor recommended him the following:

Posttest genetic counseling recommendations
He was told to show this report to his physician.

Client’s Feedback

I did know that I am at risk; this result actually confirms it. This will act as a motivating factor for me to start exercising and the diet recommendations are very useful and easy to follow. Will revert to you if in doubt.



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