Ethical Issues in Genetics Genetic Diseases Genetic Diseases

Ethical Issues in Genetics

Genetic Diseases • Genetic Diseases are inherited disorders • It is possible that many of us have genetic disorders but are heterozygous, and while we may not show the signs and symptoms of the disease we can pass them on to our offspring • As many as 15 million Americans may have moderate to severe genetic diseases • It is believed that there are over 3, 500 “established” and 2, 500 “suspected” hereditary disorders • Genetic disorders are estimated to account for over one third of acute-care hospitalization of children under 18

The Human Genome Project • The Human Genome Project began in 1990 with the goal of sequencing the DNA that makes up the human genome • It began under the supervision of James D. Watson (of Watson & Crick fame) and released a its first map of the human genome in 2000 • In 1993 when Francis Collins took over the project he predicted: • “The Human Genome Project will change the face of medicine. It’s very possible that in the future a physician will give an 18 -year old patient a physical exam that includes a test of his or her DNA for hundreds of diseases with known genetic components. ”

The Eugenics Movement

Eugenics • “Eugenics” as a concept has existing since pre-historic civilization, but mostly manifested itself in the form of arranged marriages, forced breeding and infanticide. • The term “eugenics” was first coined by Francis Galton (18221911) in the 1880 s to describe the process by which desirable traits pass from one generation to the next.

Phrenology • Before genetics became a science there were a number of ill founded popular ideas about how heredity influenced a person’s appearance, behavior and health. . . phrenology was one • Developed in Germany around 1800 phrenology was a theory which claimed to be able to determine character, personality traits and criminality on the basis of the shape of the head (i. e. , by reading "bumps" and "fissures").

Social Darwinism • Darwin’s theory of adaptation and survival of the fittest was broadened by some in the early 20 th century to include the belief that social advantages implied biological superiorities • Social Darwinists in the 1930 s and 1940 s predicted that blacks, whom they saw as biologically unfit to compete with whites, would not survive the twentieth century

Eugenics • The Eugenics movement flourished from about 1905 to 1935 • The idea was to improve humanity by improving hereditary characteristics • It was adopted by the Nazi’s who sought to improve their population by encouraging people with certain physical and mental characteristics to breed while sterilizing others • It was also popular in the US where 225, 000 people were sterilized

Eugenics • The preaching of eugenics in the United States was rampant. Proponents of the movement included some of the wealthiest families in America, including the Vanderbilts, Morgans and Rothschilds as well as birth control advocate and Planned Parenthood Founder Margaret Sanger. • The American Eugenics League’s Eugenics Record Office was headquartered at Cold Spring Harbor Laboratory on Long Island, New York.

Eugenics • The primary fear of those who promoted Eugenics in America is that the United State’s strength as a people and nation would be weakened by the unprecedented amount of interracial marriage taking place in America’s urban centers and the contamination of White Anglo Saxon Protestant racial purity by breeding with Irish, Italians, Turkis, Jews, Asians and African Americans. • The fear was Malthusian doom is that the large Catholic families of the Irish and Italians would break the economy.

Eugenics • Physicians and nurses actively promoted “eugenics marriages” to optimize the health of children. • A prominent New York physician names William Robinson wrote: • It is the acme of stupidity to to talk in such cases of individual liberty, of the rights of the individual…They have no right in the first instance to be born, but having been born, they have no right to propagate their kind. ”

Eugenics – Forced Sterilization • The US was the first of major nations to legally implement compulsory sterilization. • The first state to successfully introduce this into law was Indiana in 1907. • California and Washington introduced similar legislation by 1909. • By the end of the 1930 s over 65, 000 people in 33 states had been forcibly sterilized.

Eugenics – Forced Sterilization • Grounds for sterilization fell into three broad categories: • (1) Eugenics – Heredity based prevention of children born to the “feebleminded” & “infirm”. • (2) Therapeutic – Based on the idea of curing pedophiles and chronic masturbators of their woes. • (3) Punitive – Punishment for criminals…though also linked to eugenic thought.

Buck vs. Bell (1927) • In 1924, the commonwealth of Virginia adopted a statute authorizing the compulsory sterilization of the mentally retarded for the purpose of eugenics. • Carrie Buck, an 18 -year-old patient at the Virginia State Colony for Epileptics and Feebleminded, who had the mental age of an 8 -year-old was slated for sterilization. • Carrie Buck’s legal guardian protested the decision and the case went all the way to the Supreme Court. • The Supreme Court voted 8 -1 in favor of Carrie Buck’s sterilization. • Justice Oliver Wendell Holmes, Jr. wrote that the interest of the states in a "pure" gene pool outweighed the interest of individuals in their bodily integrity, he concluded by saying: • Three generations of imbeciles are enough.

Genetic Screening

Carrier Identification • Includes genetic tests used by couples whose families have a history of recessive genetic disorders and who are considering having children. • Three common tests include those for cystic fibrosis, Tay. Sachs disease, and sickle-cell trait

Preimplantation Genetic Diagnosis • Through PGD, patients can now determine if an embryo will be affected by a certain genetic abnormality prior to its transfer and implantation in the uterus. • PGD was first introduced over a decade ago in the UK during the late 1980's. The first PGD baby was born in 1989. • The procedure is recommended for women over 35 years of age and for couples who are at risk for passing a genetic or sexlinked genetic disease to their offspring

Prenatal Diagnosis • Prenatal Diagnosis is genetic testing of a fetus. This may occur when there is a risk of bearing a child with genes associated with mental retardation or physical deterioration. Down Syndrome is one of the most common genetic diseases screened by this method. • Prenatal testing is probably the most controversial type of diagnosis because of the abortion issue. When do we draw the line on abnormalities?

Mass Population Testing • Mass population testing is a large scale testing usually of a particular ethnic group that shows a high rate of a specific genetic disorder. This type of testing has been both successful and unsuccessful. • Highly Controversial • Examples include African Americans being screened for Sickle Cell Anemia and Jews being screened for Tay-Sachs

The Genetic Information Nondiscrimination Act (GINA) • The Genetics Information Nondiscrimination Act (GINA) was signed into law in 2008 by George W. Bush. • The act prohibits discrimination on the basis of genetic information with respect to health insurance and employment

The Genetic Information Nondiscrimination Act (GINA) • GINA prevents health insurers from denying coverage or charging higher premiums when a person’s genetic profile puts them at higher risk for certain health conditions. • GINA also protects against genetic discrimination from employers • However, GINA does not prevent life insurance providers from denying coverage.

(GINA) – Genetic Markers for Breast/Ovarian Cancer • In 1990, Mary Claire-King discovered a single gene, BRCA 1 (BReast CAncer 1) which causes one form of breast cancer and ovarian cancer. • The exact location of the gene was located in 1994 • In 1995 Alan Ashworth discovered BRCA 2. • Mutations in these genes run an 80% risk of developing cancer compared to 9% in the general population

(GINA) – Genetic Markers for Breast/Ovarian Cancer • President Obama addressed genetic testing in the Affordable Care Act. • If you have an insurance plan that began on or after August 1, 2012 then the ACA requires coverage of BRCA 1 and BRCA 2 genetic testing. • If you test positive for the gene mutation the ACA also requires coverage of counseling to help you decide if you want to pursue further treatment.

Discussion Questions. . .

Is knowing a good thing? Knowing you have a 90% chance of developing a disorder also means you have a 10% chance of not developing it. It is simply better to cross that bridge when you come to it?

One of the arguments against genetic testing by public health ethicists is that genetic testing will lower the general health of the population by taking away people’s incentives for taking care of themselves if they know that there is a higher likelihood that one specific genetic disorder will ultimately kill them. What do you think?

Making Money from Testing • In 2002 Myriad Genetics of Salt Lake City expanded its sales force from 85 to 600 agents to market BRCA 1 testing directly to doctors and patients. • The tests cost between $750 and $2, 750 per state. • The tests would only benefit between 5 to 10% of test takers who are at risk for cancer caused by the gene. • Unfortunately, BRCA 1 only offers information to women with hereditary cancer not to the 90 to 95% of women who develop non-hereditary cancer.

The criticism of the BRCA 1 test was two-fold: (1) It was easy money for Myriad Genetics and a win-win for the people who took the test. If you tested positive you were glad to know, and if you tested negative, it was a huge relief. But at the high cost of testing was Myriad Genetics taking advantage of people’s fears? (2) It started a trend of prophylactic mastectomies and hysterectomies.