Part IV of the series discusses the shortage of genetics specialists, limited medical knowledge, dealing with established standards of clinical practice and the challenge of integrating extensive information.

Part III of the series details some of the other challenges in the rare disease space: continued confusion and not knowing even after diagnosis, scattered rare disease communities, and getting the attention of governments to intervene.

Part II of the series discusses options if Next Generation Sequencing does not provide a diagnosis as well as the lack of effective treatments and therapies to cure rare diseases.

Part I of the series discusses the challenges of the limited access to Next Generation Sequencing.