Risks and Benefits of Genomic Science

What you’ll learn to do: Discuss the risks and benefits involved in applications of genetic and genomic science

Scientific developments can be used in a lot of different ways that impact our lives. Genetics and genomics both play roles in health and disease.

Genetics helps individuals and families learn about how conditions such as sickle cell anemia and cystic fibrosis are inherited in families, what screening and testing options are available, and, for some genetic conditions, what treatments are available.

Genomics is helping researchers discover why some people get sick from certain infections, environmental factors, and behaviors, while others do not. For example, there are some people who exercise their whole lives, eat a healthy diet, have regular medical checkups, and die of a heart attack at age 40. There are also people who smoke, never exercise, eat unhealthy foods and live to be 100. Genomics may hold the key to understanding these differences.

Learning Outcomes

  • Outline how genetic information is used in personal identification
  • Discuss medical uses of genetic information and the potential benefits and risks of this
  • Outline the potential benefits and risks associated with agricultural uses of biotechnology

Genetic Information Used for Identification

DNA as a Forensic Tool

Information and clues obtained from DNA samples found at crime scenes have been used as evidence in court cases, and genetic markers have been used in forensic analysis. Genomic analysis has also become useful in this field. In 2001, the first use of genomics in forensics was published. It was a collaborative attempt between academic research institutions and the FBI to solve the mysterious cases of anthrax communicated via the US Postal Service. Using microbial genomics, researchers determined that a specific strain of anthrax was used in all the mailings.

Mitochondrial Genomics

Mitochondria are intracellular organelles that contain their own DNA. Mitochondrial DNA mutates at a rapid rate and is often used to study evolutionary relationships. Another feature that makes studying the mitochondrial genome interesting is that the mitochondrial DNA in most multicellular organisms is passed on only from the mother during the process of fertilization. For this reason, mitochondrial genomics is often used to trace genealogy.

DNA Fingerprinting

DNA fingerprinting (also called DNA profiling, DNA testing, or DNA typing) is a forensic technique used to identify individuals by characteristics of their DNA. A DNA profile is a small set of DNA variations that is very likely to be different in all unrelated individuals, thereby being as unique to individuals as are fingerprints (hence the name for the technique).

Although 99.9% of human DNA sequences are the same in every person, enough of the DNA is different that it is possible to distinguish one individual from another, unless they are monozygotic (“identical”) twins. DNA fingerprinting uses repetitive sequences that are highly variable, called variable number tandem repeats (VNTRs). Modern law enforcement in particular uses short tandem repeats (STRs). STR loci are very similar between closely related individuals, but are so variable that unrelated individuals are extremely unlikely to have the same STRs. The combination of STRs used by law enforcement enable identification though because even closely related individuals will not share all the same STR loci.

The modern process of DNA fingerprinting was developed in 1984 by Sir Alec Jeffreys, while he was working in the Department of Genetics at the University of Leicester. DNA fingerprinting can be used to identify a person or to place a person at a crime scene and to help clarify paternity. DNA fingerprinting has also been widely used in the study of animal and floral populations and has revolutionized the fields of zoology, botany, and agriculture.

Video Review

Watch this video on the process of DNA fingerprinting and DNA profiling

Medical Uses of Genetic Information

Personalized Medicine

Watch this video and consider whether you would be interested in knowing details about your own personal disease risk or susceptibility.


Predicting Disease Risk at the Individual Level

Predicting the risk of disease involves screening currently healthy individuals by genome analysis at the individual level. Intervention with lifestyle changes and drugs can be recommended before disease onset. However, this approach is most applicable when the problem resides within a single gene defect. Such defects only account for approximately 5 percent of diseases in developed countries. Most of the common diseases, such as heart disease, are multi-factored or polygenic, which is a phenotypic characteristic that involves two or more genes, and also involve environmental factors such as diet. In April 2010, scientists at Stanford University published the genome analysis of a healthy individual (Stephen Quake, a scientist at Stanford University, who had his genome sequenced); the analysis predicted his propensity to acquire various diseases. A risk assessment was performed to analyze Quake’s percentage of risk for 55 different medical conditions. A rare genetic mutation was found, which showed him to be at risk for sudden heart attack. He was also predicted to have a 23 percent risk of developing prostate cancer and a 1.4 percent risk of developing Alzheimer’s. The scientists used databases and several publications to analyze the genomic data. Even though genomic sequencing is becoming more affordable and analytical tools are becoming more reliable, ethical issues surrounding genomic analysis at a population level remain to be addressed.

Debate remains over what to do with individual level data as well, such as the data from the genomic analysis of Quake’s DNA. As a result of the study it was recommended that Quake start a regiment of preventative statins; the long-term effects of this study or treatment remain unknown at this stage.

The PCA3 test occurs in three steps. In step one, PCA3 mRNA anneals to complementary DNA primers that are attached to beads. In step two, the mRNA is amplified using reverse-transcriptase PCR. In step three, the mRNA is detected using a chemiluminescent probe.

Figure 1. PCA3 is a gene that is expressed in prostate epithelial cells and overexpressed in cancerous cells. A high concentration of PCA3 in urine is indicative of prostate cancer. The PCA3 test is considered to be a better indicator of cancer than the more well know PSA test, which measures the level of PSA (prostate-specific antigen) in the blood.

For example, in 2011, the United States Preventative Services Task Force recommended against using the PSA test to screen healthy men for prostate cancer. Their recommendation is based on evidence that screening does not reduce the risk of death from prostate cancer. Prostate cancer often develops very slowly and does not cause problems, while the cancer treatment can have severe side effects. The PCA3 (Figure 1) test is considered to be more accurate, but screening may still result in men who would not have been harmed by the cancer itself suffering side effects from treatment.

What do you think? Should all healthy men be screened for prostate cancer using the PCA3 or PSA test? Should people in general be screened to find out if they have a genetic risk for cancer or other diseases?

There are no right or wrong answers to these questions. While it is true that prostate cancer treatment itself can be harmful, many men would rather be aware that they have cancer so they can monitor the disease and begin treatment if it progresses. And while genetic screening may be useful, it is expensive and may cause needless worry. People with certain risk factors may never develop the disease, and preventative treatments may do more harm than good.

Genomics in Agriculture

Genomics can reduce the trials and failures involved in scientific research to a certain extent, which could improve the quality and quantity of crop yields in agriculture. Linking traits to genes or gene signatures helps to improve crop breeding to generate hybrids with the most desirable qualities. Scientists use genomic data to identify desirable traits, and then transfer those traits to a different organism. Scientists are discovering how genomics can improve the quality and quantity of agricultural production. For example, scientists could use desirable traits to create a useful product or enhance an existing product, such as making a drought-sensitive crop more tolerant of the dry season.

GMO Controversies: Science versus Public Fear

Watch Borut Bohanec, the Chair of the Department of Agronomy at the University of Ljubljana (in Slovenia), as he discusses the fears and potential benefits surrounding GMOs.