Monday, May 9, 2016

Genetic Counselors Report Example

Today's Date:4/23/16
Dr.Amruth Nare
Mailing Address:11892 Legend Lanes, San Jose CA 20831

This is a confidential genetic counselors report for Gail Gene and Adam Adenine.

It has been brought to my attention that as a couple you are deeply concerned about the possibility of passing on the genetic disease, Huntington’s Disease, to your children.

I have examined both of your DNA samples and I can address the upcoming test results:
(Gender:Male)
Adam Adenine has the genotype,Hh for this disease which means you unfortunately have the disease.
(Gender:Female)
Gail Gene has the genotype,hh for this disease which means you do not have the disease.

In this genetic counselors report I will include the following:
  1. An explanation of how genetic traits(including genetic diseases are passed from parents to their children.
  2. A full description of the genetic disease that runs in your family(Huntington's Disease)-including symptoms,treatment options,and organ system(s) that are affected by the disease.
  3. A Punnett Square and a Pedigree chart for the genetic disease that runs in you family so you can see the possible outcomes for your children.
  4. Also a final explanation of the probability you have of passing the genetic disease to your children.

Explanation of How Genetic Traits are Passed from Parents to Children:
The passing of genetic traits from parents to their children is a very complex and intricate system.It revolves around DNA,which is a substance that is the “building blocks” of a chromosome.A chromosome is a genetic substance in the nucleus of a cell.Each cell in the human body has 46 chromosomes(which contain your genetic blueprint),23 are recieved from the mother and 23 from the father.During fertilization or intercourse the two gametes(Sperm cell and Egg)combine to create a zygote with a set of 46 chromosomes.The traits your chromosomes contain may be dominant or reccesive,so the alleles(a form your traits may be described in)determine traits.So a genotype for a certain trait is taken from mother and one from father.The traits may be coded one for blue eyes and another for brown eyes.The trait that is dominant will mask the reccesive trait.So if brown was dominant and blue was reccesive,the child would have brown eyes.Though if there was two reccesive alleles then the reccesive genotype would be visible in the baby.Genetic Diseases are passed in a somewhat simalir way,they could be dominant or reccesive.As already stated if it was a dominant disease then just one dominant allele would give you a high chance of having the disease.Though if it was reccesive then having just one recessive would make you a carrier for the disease but two would make you have the disease itself.So after reading this I hope you have a better understanding of heredity.




Description of Huntington’s Disease-A Genetic Disease:
The Huntington’s Disease is a genetic disease which is generally caused by inheritance from Parent to offspring.The Huntington's Disease or HD for short is a Dominant disorder,so you would need at least one dominant genotype to receive this disease.There are many symptoms caused by Huntington’s Disease such as frequent mood swings,poor memory ,irritability, depression,difficulty walking,and sporadic uncontrolled movements.Currently this genetic disease does not have a cure,though there is many treatment options.Which unfortunately do not halt the progression of the disease,but they cause you to feel more comfortable.There is also lots of medication  which will continuously ease the continual feelings of depression.Due to the uncontrollable movements from this disorder there is remedies and medication which will stop that particular symptom.Another recommended treatment is to take therapy to help assure that patients can lead more typical lives.Huntington’s Disease,as it is a disorder in which symptoms affect most brain functions like judgement.Huntington’s Disease would be naturally a disorder which affects the nervous system.


Punnett Square for this Disease:













Summary with Probability of Passing this Disease to Your Children:

After checking your DNA test results and analyzing your genotypes for the Huntington’s Disease has sadly brought me to the conclusion that their is a 50% of having a child with Huntington’s Disease.Also a 50% chance of having a child with HD,I have managed to discover these readings through a Punnett Square with your genotypes graphed on,which I have attached in this document.Due to this unfortunate probability of having potential children with HD,I would like to discuss various treatment options with you.As you already know sadly there is no cure for this disease,though many treatment options will help ease the feelings of depression and make you more comfortable.I hope I have managed to be a succesful Genetic Counsler to you and have provided you with enough information to lead typical lives.

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