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Genetics and Inherited Conditions, 2nd Edition

Preface

by Meredith Jones, MS, LCGC

During the years since the previous edition of this text was published, our knowledge of genetics and genomics has increased exponentially beyond the realm of research and theory and has become integrated into everyday life in the form of new technologies and treatments available on a clinical basis, direct to consumer genetic testing, and legislation, among others. As stated previously, genetics has come to the forefront of public consciousness creating an even greater push to involve the lay community in becoming more involved with their own genetics.

The previous preface left us to ponder two questions regarding the future of genetics. The first question involved determining the interaction of amino acids within the complex 3D structure of proteins. The second question was related to determining other factors that play a role in the control of gene expression in humans. Today, we have the ability to look beyond the now relative simplicity of protein structure interactions and factors that control gene expression which, in and of itself, is a whole branch of genetics called epigenetics. In the past, research and genetic testing had been largely single gene or chromosome based; focusing on either well-known genetic conditions or those that have yet to be described. And while this research still exists, at present, there is a good majority of research that is designed to look more globally at how genetics and genomics can help us understand complex diseases which will no doubt benefit society as a whole. Complex disease is defined as: diseases that account for a substantial proportion of morbidity, mortality, and health care costs in contemporary populations. Given the political climate at the time of this publication, research regarding how those two elements [protein structure interactions and epigenetics] play a role in the development of complex disease may go a long way in directing the on-going discussions about the future of health care in America and around the world.

Based on the goals and scope of this text, it is impossible to discuss all of the many developments in genetics and genomics over the years. However, here, several important events are highlighted as it is likely that these events could change or have already changed the face of modern genetics.

An exciting and important step forward includes the development of drugs that are designed to treat the underlying mechanisms that cause well-known genetic conditions. These include: cystic fibrosis, Duchenne muscular dystrophy, and spinal muscular atrophy. While these medications are far from a cure for these conditions, they set a precedent for future work in the treatment of genetic disease. Another highly publicized technique is known as CRISPER/cas9. This technique is a gene editing tool that is being utilized to attempt to correct the genetic defects in genes at the embryo level. It is likely that several improved versions of CRISPER/cas9 will be developed after this text is published; however, it is important to note here that this technology exists and can be modified for future use.

With the increased availability and popularity of direct to consumer testing, the public is becoming more and more involved in their own genetics. Genetic testing kits can be purchased online, a doctor’s office, or even over the counter at drug stores for a minimal cost. Consumers can then provide a specimen, send their sample off to a laboratory, and two weeks later receive a breakdown of potential genetic health risks. Genetics professionals caution that this information should not be acted upon until discussed with a physician (if at all) and that consumers should take advantage of the genetic counseling services provided by the performing laboratory which are often free of charge. While this type of testing currently has questionable clinical utility, and has a lot of room for improvement, when looking at the future of genetics and genomics, it is likely that this will become how the majority of genetic testing is done.

Within the past 10 years, two important legal precedents have paved the way for greater access to genetic services and genetic testing for consumers. In 2009, the Genetic Information Nondiscrimination Act (GINA) was enacted into law and made it unlawful for employers and insurance companies to discriminate against individuals due to their genetic information. It is far from a perfect solution to the issue of genetic discrimination and it does not cover all types of insurance; however, it is a good first start and has led to other countries following suit and developing their own laws to protect those who may be affected by genetic disease. In 2013, the Supreme Court declared it was illegal for companies to patent genes because genes are naturally occurring. This was a landmark decision since, until then, some genetic testing laboratories had monopolies on certain genetic tests which made testing very costly and limited access to some individuals who could benefit from the information provided.

Lastly, one cannot discuss the future of genetic medicine without a discussion of the Precision Medicine Initiative. Launched in 2015, the Precision Medicine Initiative aims to make advances in medicine tailored to the individual by collecting genetic and health information from 1 million people. The hope is that by the year 2020, targeted cancer treatments, medications for complex diseases, and other therapies will be personalized based on each individual’s genetic information.

In the years to come, we will continue to see an increase in understanding of the associations between DNA sequence variants and epigenetic factors in the study of complex disease and how it is influenced by genetic factors. We will also no doubt see an increase in technological advancements, treatments, testing availability, ethical debates, and necessary legislation. Our societal goals for genetics and genomics are lofty. But, given the accelerated rate of our knowledge and understanding of genetics in the past 10 years, it is not inappropriate to think that technologies will surpass those that have, as of yet, only been depicted as science fiction.

Citation Types

Type
Format
MLA 9th
Jones, Meredith. "Preface." Genetics and Inherited Conditions, 2nd Edition, edited by Gary M. Flashner & Deanna M. Neff, Salem Press, 2017. Salem Online, online.salempress.com/articleDetails.do?articleName=Genetics2E_0002.
APA 7th
Jones, M. (2017). Preface. In G. M. Flashner & D. M. Neff (Eds.), Genetics and Inherited Conditions, 2nd Edition. Salem Press. online.salempress.com.
CMOS 17th
Jones, Meredith. "Preface." Edited by Gary M. Flashner & Deanna M. Neff. Genetics and Inherited Conditions, 2nd Edition. Hackensack: Salem Press, 2017. Accessed December 14, 2025. online.salempress.com.