MY INTERNSHIP

Elevator Pitch .pdf

My Internship Site Role 

I work with neurogenetic counselors at Riley Hospital for Children and IU Health in putting in genetic testing orders, reviewing pedigrees, uploading results, and collaborating with the genetic counselors in creating patient care handouts that their patients can use to better understand genetic testing they may receive, their results, and the meaning of their results. 

Project Summary 

Neurogenetic testing is a widespread used method in medical practice to diagnose patients with neurogenetic disorders. Testing allows for physicians to better treat patients, understand the causes of a disorder, and see what can be expected in the future for a patient. Different types of genetic testing are conducted based upon a patient’s family history and symptoms present. For patients to be able to better understand, why they are receiving genetic testing, the different types of genetic testing, and what their results mean, I have collaborated with genetic counselors and gained experience in their field to create patient handouts so patients can gain a better understanding of genetic testing they receive.  

Genetic Testing Handouts 

These type of handouts are coordinated with the type of genetic testing our office covers. These go in depth over what the testing is, the process of the performed genetic testing, what the results mean, and what the next steps are. 

Ataxia Panel .pdf

Ataxia Panel 

Whole Exome Sequencing .pdf

Whole Exome Sequencing 

Whole Genome Sequencing .pdf

Whole Genome Sequencing 

Epiplepsy Panel good .pdf

Epilepsy Panel 

Mitochondrial Genome .pdf

Mitochondrial Genome Testing 

Carrier Partner Testing .pdf

Carrier Testing 

What is a Variant of Uncertain Significance.pdf

What is a VUS? 

Parental Variant Testing .pdf

Parental Variant Testing 

Genetic Mutation Results Handouts 

The gene mutation handouts go in depth over different kinds of genetic mutation diagnosis's. They explain the different symptoms that can be present, how it is inherited, and what the different genetic mutations are and how they occur. 

DMD .pdf

DMD 

NF2.pdf

NF2 

NF1 - SPRED 1 .pdf

NF1 - SPRED 1 

CMT1A.pdf

CMT1A 

SMA .pdf

SMA 

What is Genetic Counseling? 

This webpage gives a lot of great insight of what neurogenetics is and what a neurogenetic counselor does! Click on the link to go to the webpage! 

GeneDx Youtube Video 

The Youtube video shown on the right by GeneDx is also a great source that explains what a genetic counselors role is in the healthcare setting! 

Learning and Skills

Prior to My Internship

I will build on my existing strengths during my internship by continuing to take every chance I can to get to make any strength I have stronger. When communicating with others I will take the time in thinking of better ways to have conversations and/or speak with them so that I can become more fluent when speaking with patients or in a professional setting in general.  From my internship, I want to learn more about genetics and continue to understand people more. These are two things that I greatly will need in my future career. I am most excited to continue hearing about the different genetic mutations that are found in people.

Half Way Through My Internship 

After the completion of the first half of the fall semester, I have discovered changes in my skill growth. Being an intern has allowed me to communicate more effectively, gain independence, and truly understand the concept and skill of application and integration. I would still like to gain the skills of confidence, punctuality, and confronting failure to improve my professional self. I plan to grow in these skills by continuing to work effectively and take participate in every opportunity that I see where I can grow these skills . This is because by knowing more about genetics and how to work in a professional setting,  I can better assist my patients someday. A couple of my favorite experiences so  far that I have greatly enjoyed doing  in my internship is creating pedigrees, interpreting genetic results, and also making patient care information packets. 

Course Work Ties 

Thus far in the semester, I have learned a lot about genetic disorder's  and different genetic testing. I have grown professionally in my future career field, and also have grown academically in my coursework with the knowledge I have gained from my internship.  This internship fits into the curriculum I am taking in school and learning in class right now greatly. Every biology and chemistry course I have had speaks on genetics. From learning about this material during my coursework, and getting to apply it during my internship, it has allowed me to fully understand genetics in a deeper meaning. I am able to apply the knowledge I have from class to my internship site when interpreting genetic mutation results and seeing how they can affect a person. 

Second Half Through My Internship 

Through my experience with my internship, my contributions will help greatly in the future in helping future patients know more about the genetic testing they are recieving and their results. This is a big step in knowing I am already helping patients even without being a doctor yet. My efforts matter because I am helping patients and their families gain a better understanding of their health and giving them resources. 

Self Evaluation

I have learned a tremendous amount of information and will be a better health care provider someday because of the experiences I have recieved through my internship. I have become more of a professional by experiencing how to talk to patient's families when asking them questions of the phone, learning more about confidentiality, and being able to make an impact on patient and families lives with the patient care handouts I made. 

Re-Evaluation of Course Work Ties 

My coursework has increased my understanding of my internship greatly as I have proceeded through. This past semester, I took genetics which tied in with my internship greatly. I found that while working on my internship, I was able to make ties to what I was learning in class. I saw this tremendously when working on the pedigrees at my internship. 

For example, in my class on genetics, we learned how to identify the different types of pedigrees and modes of inheritance of genetic disorders. When working with my supervisor on uploading and copying pedigrees, I found myself able to make connections between what types of inheritance I saw in class and able to identify them when working on patients pedigrees. 

When looking at the pedigree below, I am now able to easily identify this pedigree as having an autosomal dominant mode of inheritance based on the knowledge I have gained from my internship site when working with pedigrees and the knowledge I have gained from my course work on learning how to identify the different modes of inheritance of genetic disorders.