A Brief History of Genetic Testing

Historically, genetic testing has played an important role in medicine, and it has helped to uncover medical problems that are inherited. It has also led to personalized health risk information and improved treatment options.
Knowledge

Several studies have been conducted to evaluate knowledge of genetic testing history. These studies indicate that public awareness and understanding of genetics may be increasing. However, the extent of genetic knowledge is still unclear.

A questionnaire was developed to assess knowledge of genetics and genetic testing history. It included 26 knowledge questions. The questionnaire was administered to 359 parents. It was a web-based questionnaire that could be answered within a short period of time. The questionnaire was adapted to the Dutch health care system. It took 30 minutes to complete.

The questionnaire included 17 concept questions, including six questions about the meaning of genetic terms. It also included questions regarding the concept of probability. There were also nine fact questions, including two questions about the characteristics of genetic disorders.

Attitudes

Using surveys, researchers have tried to assess public attitudes towards genetic testing and genetic information. They found that a lot of respondents were curious about their genetic make-up and believed that genetic testing is important. They also discovered that a glossy leaflet elicits more positive attitudes (a finding corroborated by research done in other fields, such as personal finance).

A survey of Dutch Health Care Consumer Panel participants was used to measure knowledge of genetic testing and genetic information. More than three-quarters of respondents were familiar with genetic testing. They also believed that genetic counseling was offered to people with genetic diseases. They recalled well the information presented in relation to genetic testing.

Compared to 2002, respondents were more confident that genetic testing would become more widespread and more commonly used. They also expected to be asked by insurers to undergo genetic tests. However, fewer respondents thought that genetic tests should be offered to all pregnant women and that more money should be allocated to genetic testing.

Beliefs

Despite recent studies that have suggested genetic testing to be harmful, public attitudes about genetic testing remain generally positive. People fear discrimination and negative consequences of genetic testing. Nevertheless, genetic research has made great strides in advancing the diagnosis of rare diseases and has opened avenues for precision therapies. Genetic testing can be beneficial and can help people live longer.

However, there are still ethical concerns about genetic testing. Some scholars have argued that genetic research may exacerbate society’s ambivalence towards physical difference. Other scholars have criticized genetic testing for prenatal screening. In 2010, people’s attitudes towards genetic testing were more positive than in 2002.

A study comparing public attitudes about genetic testing in 2002 and 2010 found that people were more likely to believe that genetic research would help people live longer. They also expected to see more genetic testing in society. Moreover, they were less concerned about genetic predispositions. They were also more likely to believe that genetic research would benefit people who were familiar with genetic diseases.

Perceived barriers

Several qualitative studies have explored perceived barriers to genetic testing. In general, these barriers have been related to demographic and clinical variables. Some studies have also focused on ethnic minority groups. These groups may have lower awareness and acceptance of genetic counseling.

Studies have also shown that patients are not always deterministic about their genetics. Their attitudes may be influenced by their family members’ perceptions of genetics. This may deter patients from seeking genetic counseling services. In addition, they may have a low awareness of genetic testing.

The lack of knowledge about genetics is the most common barrier to discussing genetic tests. Lack of awareness may also lead to concerns about discrimination from insurers.

Studies have also examined the emotional and cognitive barriers to genetic testing. These barriers are related to patients’ awareness of genetic testing and their anticipation of negative emotional reactions to testing. Participants reported that women who declined genetic counseling and testing were more likely to anticipate negative emotional reactions to testing and to anticipate more intrusive thoughts about breast cancer.

Personalized health risk information

Personalized health risk information is defined as information about an individual’s risk of developing a particular disease, based on the genetic makeup of the individual. It is often used for screening, risk stratification, and prevention. Some research has suggested that genetic risk information may change how people perceive treatment effectiveness. This may lead to feelings of fatalism. However, little is known about the extent to which genetic risk information can influence fatalism.

The human genome project has allowed for the detection of heritable components in many common diseases. Personalized genetic risk information has been documented in the treatment of smoking cessation and depression. However, few studies have investigated the effects of genetic risk information on fatalism. It is unclear whether the effects of personalized risk information on fatalism are limited to the initial response, or if they are persistent.