103: Genes, Inherited Diseases, and Pregnancy

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All human diseases are, to some degree, influenced by genetics 1. The recent pandemic has proved that genetic variation in the human genome is able to influence the susceptibility and severity of disease 2 – that is, how likely you are to get it and how severe it is when you do. In the same vein, not only COVID-19, but all manner of diseases are affected by human genetics. Common complex diseases such as cancer, cardiovascular disease, diabetes, autoimmune disorders, and some psychiatric illnesses all pose family or genetic history as one of the strongest risk factors for the likelihood of these diseases 3; which is why medical diagnoses often begin with a full assessment of your family’s medical records.

Rare diseases are diseases that are most commonly caused by genetic mutations and are found in less than 5% of the global population. They present themselves in different types of pathologies such as cancers, cardiovascular diseases, and even some non-communicable inherited diseases like Alzheimer’s disease. Their rarity has made it hard for the medical industry to make accurate diagnoses. Patients face an uncertain and unpredictable journey, lasting an average of eight years but sometimes more than 10 years, known as the diagnostic odyssey. Recent advances in genomic technologies such as NGS have increased physicians’ ability to properly diagnose, and thus, treat rare disease patients. This is because, as the saying goes, all cures start with a proper diagnosis.

Conceptualization of the diagnostic process.

In this course, you will learn about rare and inherited diseases and the types of diseases that it presents themselves as. Additionally, you will learn the latest diagnostic technologies and treatments for these diseases, including pregnancy and newborn screening. By the end of the course, you will be able to use this knowledge and apply it in the context of healthcare settings and learn about the application of genomic technologies.

Key Concepts Covered:

  • Pedigree and Risk Calculation
  • Inheritable Cancers
  • Inheritable Cardio Vascular Diseases
  • Other Rare Diseases
  • Pregnancy and New Born Screening
  • Genomics and Inherited Diseases

 Tip! Want to know first what’s in the course? Click on ‘Expand All’ and scroll down.

Your Investment

This course will take approximately 4 hours. Course materials are accessible for a month after your date of enrollment.

Required Knowledge

For a good understanding of terminologies and basic principles, it is necessary to have finished the “101: Genomics in Modern-Day Healthcare” course, available for free on the website.

How Will You Learn?

The course includes film, animation, exercises, and quizzes to help you embed learning and deepen your understanding of the key concepts. There are knowledge checks where you take the role of a practicing doctor, with expert comments afterward, so that you can learn from the experts in the field.

In the bonus lesson at the end, you will find extra material, such as links to additional information and the complete glossary.


At the end of the course, you will be presented with a final quiz. Achieving an 80% score will be rewarded with the PHIX Genomics Academy 103 Genomics Certificate. Also, a discount coupon of 15% for future course purchases is awarded.

This course is a part of the required training to certify you for the practitioners’ programs of the PHIX Genomics Academy.


This course is developed and owned by PHIX Genomics Inc., inspired by its mission to bring genomic innovations to the Philippines and SE Asia. The PHIX Genomics Academy is happy to invite you to take this e-learning.

This course is based on material from external sources. We gratefully thank all institutions and organizations for their effortless input to further the field of genomics and help improve people’s lives all over the world. We have taken considerable care to make fair use for educational purposes only. Please contact us if you are the rightful owner of the used material and feel any infringement is at stake.

Start your learning about Inherited Diseases!

– Click on ‘Lesson 1: Inherited Diseases: an Introduction‘ below to start the course.
– You can pause any time you want, go forward, or back at your own choice.
– When you feel happy with the material and ideas covered in a step, press ‘Show next chapter’ to complete the topic and record your progress.  You can then click ‘Next Topic’ to continue or press ‘Previous Lesson’ to return to the preceding lessons.
– At each lesson introduction, the ‘Back to Course’ button is available if you want to be redirected to this page. When on a subtopic page, ‘Back to Lesson’ brings you back to the lesson introduction.
– You can always return to any point in the course, even after completion of the course.
– There will be a final quiz at the end of the course, and more details will be provided once this step is reached.


  1. Claussnitzer, M., Cho, J. H., Collins, R., Cox, N. J., Dermitzakis, E. T., Hurles, M. E., Kathiresan, S., Kenny, E. E., Lindgren, C. M., MacArthur, D. G., North, K. N., Plon, S. E., Rehm, H. L., Risch, N., Rotimi, C. N., Shendure, J., Soranzo, N., & McCarthy, M. I. (2020). A brief history of human disease genetics. Nature577(7789), 179–189. https://doi.org/10.1038/s41586-019-1879-7
  2. Asgari, S., & Pousaz, L. A. (2021). Human genetic variants identified that affect COVID susceptibility and severity. Nature, 600(7889), 390–391. https://doi.org/10.1038/d41586-021-01773-7
  3. Institute of Medicine (US) Committee on Assessing Interactions Among Social, Behavioral, and Genetic Factors in Health; Hernandez LM, Blazer DG, editors. Genes, Behavior, and the Social Environment: Moving Beyond the Nature/Nurture Debate. Washington (DC): National Academies Press (US); 2006. 3, Genetics and Health. Available from: https://www.ncbi.nlm.nih.gov/books/NBK19932/

Course Content

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