Presentation Details: Slides: 16 Duration: 00:20:25 Filename: F:\Updated Lectures\Your Family Health History.pptx Presenter Details: Name: Dr. Whitney Breslin Title: University of Houston Email: wltharpe@uh.eduPublished by Articulate® Presenter www.articulate.com Slide 1  Your Family Health History Duration: 00:00:15 Advance mode: Auto Notes: In this lecture we will discuss the genetic,  physiological, and behavioral components of  your family health history. As we review the  various components, please pause periodically  and think about how you can apply these  concepts to your own life. Slide 2  Creating a Family Health Tree Duration: 00:00:20 Advance mode: Auto Notes: A family health tree, also called a genogram or  genetic pedigree, is a visual representation of  your family’s genetic history. Creating a family  health tree can help you identify patterns of  health and illness within your family, in order to  pinpoint areas of special concern or risk for you. Slide 3  Family Health Tree Duration: 00:00:35 Advance mode: Auto Notes: This diagram is an example of a complete family  health tree. It is particularly important to note the  birth day and death of each family member. Of  equal importance is the cause of death, which  may provide insight into potential family health  issues or risks. Other information that is helpful  is: when a family member was diagnosed with  particular disease, disaboilities, operations,  reproductive problems, mental health issues, and  any other health details available to you.

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Slide 4  What can you learn from your family  health tree? Duration: 00:01:04 Advance mode: Auto Notes: Identifying certain patterns on your family health  tree may suggest a genetic link. For example,  early onset of a disease often means that  disease is genetic or has a genetic component.  Also, the occurrence of a disease in multiple  family members on the one side of your family  also suggests a genetic association. A family  member with multiple cancers or a family  member who lives a healthy lifestyle and still  develops a disease are other indicators that the  cancer or disease is genetic. On the other hand,  lung cancer that develops in a relative who has  smoked for 40 years may not be genetically  linked. While this is not something to stress  about, understanding your family’s health history  can help you be proactive in living a healthy  lifestyle. If you are aware of several close  female relatives that have had breast cancer,  you will be more likely to schedule regular exams  or mammograms with a doctor.

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Published by Articulate® Presenter www.articulate.com Slide 5  You and Your Genes: The Basics of  Heredity Duration: 00:01:18 Advance mode: Auto Notes: This diagram demonstrates the components of a  chromosome, gene, and DNA. The nucleus of  every human cell contains an entire set of  genetic instructions stored in our DNA  (deoxyribonucleic acid) that is passed from one  generation to the next. DNA has four building  blocks (nucleotide bases; A,T,C,G) that can be  arranged to form a distinct message (gene) that  acts as the body's instruction booklet. DNA is  divided into 23 pairs of chromosomes (one set of  each pair comes from each parent) = 46 total.  Abnormalities within these 23 chromosomes  have adversely affect your health. Luckily many  such abnormalities can be detect prior to or at  birth; however, some of these go undetected.  The individual chromosomes can be broken  down into separate genes. A gene is a series of  paired nucleotides at a certain location on a  chromosome that codes for a certain protein.  Proteins are the body's fundamental building  blocks and disturbances in proteins can be the  cause of many health-related problems. Slide 6  The Human Genome Project Duration: 00:00:49 Advance mode: Auto Notes: The human genome project was launched in  1990. It was an international collaboration  between 20 research groups in 6 different  countries. In April 2003, it was announced that  the sequencing of the human genome was  complete; discoveries included: • Humans have only 20,000 to 25,000 genes  (same as a mouse) • That there are many potential applications in  medicine and pharmaceuticals • Race has more to do with social and cultural  interactions and has no biological basis The data scientists gathered from the human  genome project has been paramount in the  progress researchers have made in the area of  genetics and genetic disorders.

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Slide 7  The Role of Mutations Duration: 00:01:01 Advance mode: Auto Notes: In order to understand the role of genes in your  family health tree, it is important to discuss terms  typically applied to genetic measurements. A  change in a gene is called a mutation.  Remember that genes are chains of nucleotide  basis in a specific order. A mutation occurs  when one or more of those bases changes and  the order of the chain is disrupted. The location  of the mutation determines the effect. Some  mutations are harmful, other mutations can be  beneficial, and some have no effect.  Alternate forms of the same gene are called  alleles. You will share some common alleles with  the members of your family health tree; however,  individuals who are not from your family health  tree may have different alleles that you.  Mutations allow for the great diversity that we  see within the human race, and while they may  cause disease, they also make us uniquely  different than each other.

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Published by Articulate® Presenter www.articulate.com Slide 8  Genetic Inheritance Duration: 00:01:09 Advance mode: Auto Notes: Alternate forms of genes, called alleles, account  for our genetic inheritance that we receive from  our biological parents listed in the family health  tree. It is your genetic inheritance that accounts  for the many physical traits that you have. For  example eye color is an inherited trait. Alleles  can be dominant or recessive. Remember that  for most genes, you have two copies of each  gene that you inherited from your mother and  your father. Each copy of the gene could be  different. For example one copy may give you  blue eyes while another may give you brown. So,  what color are your eyes if you have both the  brown and blue eye version of the eye color  gene? Brown. This is where the idea of dominant  and recessive comes in. Dominant means that  one of the versions trumps the other. In our  example here, brown is dominant over blue so  you end up with brown eyes. Most characteristics  (such as height or skin color) are determined by  the interaction of multiple genes at multiple sites  of different chromosomes. Slide 9  Single-Gene Disorders Duration: 00:01:25 Advance mode: Auto Notes: Some diseases are caused by the alteration  (mutation) of a single gene. Before we discuss  these disease, we will define the term autosome.  An autosome is a chromosome that does not  determine gender. If you remember back to the  previous slide, we all have 23 chromosome  pairs. 22 of those pairs are identical between  men and women. The 23rdpair is our XX or XY  chromosomes that determine our biological  gender. Genetic diseases or disordered that  result from a mutaiton on an autosome are called  autosomal disorders.  • Autosomal dominant disorder: Mutated  gene is on a dominant autosome; hypertrophic  cardiomyopathy (common cause of sudden  death in young athletes)

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• Autosomal recessive disorder: Two  copies of a mutated gene on an autosome;  Cystic Fibrosis Sex-linked disorder: Mutated gene is on the  chromosome that determines gender. Examples of these would include hemophilia and Fragile X  Syndrome, which are both associated with a  mutation on the X chromosome. Slide 10  Multifactorial Disorders Duration: 00:01:52 Advance mode: Auto Notes: The determination of disease risk is not as  simple as simply testing a person for a genetic  mutation or specific type of allele. The onset of  most diseases is associated with an interaction  between genetics and environmental factors.  You may have also heard this referred as the  "nature vs. nurture" argument. Many diseases  and traits can result from interactions between  genes and the external environment. For  example it has been established that individuals  who live to be a 100 years old have a specific  allele type; however, living to be 100 years old  will only happen if you are careful in the lifestyle  choices that you make. For instance if you had  the allele to live to be 100 years old, but you  smoked your whole life, it is likely that you would  not live to see 100 years old. The reality is that  while most diseases have at least some genetic  origin, the vast majority of diseases that afflict  people in the world today are multifactorial in  origin. One of the biggest challenge in the US  today is the negative health consequences  associated with being overweight or obese. It  has been estimated that less than 2% of obese  individuals actually have an allele type that  causes obesity. Thus 98% of obese individuals  are in that situation because of lifestyle choices

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that they make or how they were raised. It is  common for individuals with certain conditions  associated with lifestyle choices to turn the  blame on bad genetics, although this is rarely the  cause. The diseases asssociated with obesity  tend to be good examples of multifactorial  diseases. Some of these diseases include type II  diabetes mellitus and various forms of  cardiovascular disease. Slide 11  Multifactorial Inheritance in  Personality and Behavior Duration: 00:02:25 Advance mode: Auto Notes: Genes appear to play a role in personality and  everyday behavior. The most compelling data  proving this to be the case in studies that have been completed in human twins. Because  identical twins have an identical genome,  variations can be attributed to environment. The  emerging field of epigenetics explores these  connections between genetics and the  environment. Twin studies were the foundation  for what we currently known about the role of  genes in behavior. Some of the common  behavioral factors linked to genetics include  various personality traits or types, sexual  orientation, and inclination towards addiction.  Personality traits including shyness,  aggressiveness, and emotional reactivity appear  to have a genetic component. Personality is  another area that can be explored on your family  health tree. Many of your family member may  have similar personality traits and inclinations.  Environment and experiences also play a large  role in the development of personality, though. Sexual orientation is another behavioral trait that  appears to have a genetic link. Some studies  indicate that genes on the X chromosome may  play a role in sexual orientation, however, no  specific genes have been identified, to date.  Other factors including birth order, prenatal  factors, and brain development also seem to play

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a role in determining a person’s sexual  orientation.  Addiction, which can include physical  dependence on a substance (which may be  drugs, alcohol, tobacco, etc) or behaviors like  gambling, is also genetically-linked. Genetics  play a role in determining how likely you will be  to initially try or use the substance, your risk of  continuing to use the substance and become  addicted, and also your risk of relapse. The  genes responsible for these areas are often  called susceptibility genes, since they increase  your risk or inclination towards these behaviors.  However, environment and outside influences  still have a large effect, and it is definitely  possible to overcome or resist genetic  susceptibility. Slide 12  Chromosomal Disorders Duration: 00:02:00 Advance mode: Auto Notes: A chromosomal disorder is an inherited disorder  caused by the addition, loss, or alteration of an  entire chromosome. Disorders which result in the  addition of a chromosome which are known as  trisomies and are the most common of the  chromosomal disorders. There only 3 trisomies  that result in a baby that can survive for a time  after birth; the others are too devastating and the  baby usually dies in utero. Infants that survive to  be born can have severe consequences due to  their chromosomal disorder.  Down Syndrome also known as trisomy 21 is  caused when by the presence of an extra copy of  chromosome 21. Down syndrome affects 1:700  children and alters the child's phenotype either  moderately or severely. Some of the phenotype  changes include: characteristic facial features,  short stature; heart defects; susceptibility to  respiratory disease, shorter lifespan; prone to

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developing early Alzheimer's and leukemia; often  sexually underdeveloped and sterile, and usually  some degree of mental retardation. Down  Syndrome is correlated with age of mother but  can also be the result of nondisjunction of the  father's chromosome 21. Down Syndrome is the  most common chromosomal disorder. Patau syndrome also known as trisomy 13 is  associated with serious eye, brain, circulatory  defects as well as cleft palate. This syndrome  afflicts 1:5000 live births. Children rarely live  more than a few months. Edward's syndrome or trisomy 18 effects almost  every organ system. Edward's syndrome is vary  rare, affected only 1 in 10,000 live births.  Children with full Trisomy 18 generally do not live  more than a few months. Slide 13  Genetic Counseling and Testing Duration: 00:01:05 Advance mode: Auto Notes: Genetic counseling helps individuals and families  understand genetics, evaluate risks, learn about  testing options, and discuss treatment options Popular tests can broken down into the following  categories: Diagnostic : confirms whether or not you have  the disease Predictive : assesses risk of developing a  disease (not guaranteed development) Carrier : determines whether you can pass on  the disease to offspring

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Prenatal Screening: routine tests for genetic  disease in the unborn child; does NOT prevent  genetic disease Newborn Screening: routine tests for genetic  disease in the infant Slide 14  Management and Treatment of Genetic Conditions Duration: 00:01:30 Advance mode: Auto Notes: There are many tactics that can be used to  manage and treat genetic conditions. We will  discuss some of these options on this slide. Dietary modification: Lactose intolerance is a  genetic condition that can be treated by asking  the patient to avoid consumption of lactose.  Specificall,y an individual may drink lactaid or  soy milk. Medication: Hemophilia is a genetic discorder  that effects blood clotting. An individual who has  hemophilia can take a synthetic form of the blood  clotting fatcor they are missing as a medication. Environmental Adaptation: Albinism or lack of  skin melanin content is a genetic condition.  People with albinism should avoid direct sun  exposure by wearing protective clothing or  sunscreen.

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Gene therapy: The idea of gene therapy have  become very popular in recent years. The goal of  gene therapy is to insert a normal gene into a  person's DNA to replace a defective gene. While  this sounds very appealing, scientists are likely  many years away from being able to routinely  use this treatment option. Slide 15  Implications of Genetic Research Duration: 00:03:12 Advance mode: Auto Notes: Along with genetic research, come many  controversies and considerations.  For example, such testing can create  controversy and anxiety associated with knowing  you may be at risk for a disease. The problem is  that just becuase you have an allele associated  with a particular disease, this does not  necessarily mean you will ever develop this  disease in your lifetime. In fact by carefully  selecting lifestyle options, it may be possible to  completely counter your genetics. Because of  the uncertainity many physicians question the  usefulness of such tests to begin with. One of the most significant issues concerning  genetic testing for disease is issues associated  with privacy and discrimination. In particular  workplace discrimination is a major concern. There are situations where potential  discrimination could occur such as withholding  promotions or not hiring someone based on risk  of disease. Health insurance is another area of

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discrimination. There is a possibility to  discriminate, for example requiring higher rates  based on health risks. New healthcare reform  measures prohibit this type of bias associated  with pre-existing genetic conditions. Eugenics (selective breeding): practice of  controlling a group's reproductive choices, in an  attempt to improve the human species. When  one considers the strong contribution of  agricultural breeding to the eugenics movement,  it is not difficult to see why eugenicists used state  fairs as a venue for popular education. A majority  of Americans were still living in rural areas during  the first several decades of the 20th century, and  fairs were major cultural events. Farmers brought  their products of selective breeding — fat pigs,  speedy horses, and large pumpkins — to the fair  to be judged. Why not judge "human stock" to  select the most eugenically fit family? This was  exactly the concept behind Fitter Families for  Future Firesides — known simply as Fitter  Families Contests. The contests were founded by Mary T. Watts and Florence Brown  Sherbon — two pioneers of the Baby Health Examination movement, which sprang from a  "Better Baby" contest at the 1911 Iowa State Fair  and spread to 40 states before World War I. The  first Fitter Family Contest was held at the Kansas  State Free Fair in 1920. With support from the  American Eugenics Society's Committee on  Popular Education, the contests were held at  numerous fairs throughout the United States  during the 1920s. While the goal of the eugenics  movement of the 1920s in the United States was  pure in its intent, this practice was quickly

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abandoned when Hitler and the Nazis sought to  wipeout the entire Jewish race as an extreme  form of eugenics. Slide 16  Take The Quiz Duration: 00:00:25 Advance mode: Auto Notes: This concludes the lecture on your family health  history. Hopefully over the course of this lecture  you have gained insight of the many components  that contribute to your family health history. You  can revisit this lecture as often as you like to  review to core concepts prior to taking the quiz  over this topic. As always if you have any  questions, please post them in the discussion  board on Blackboard.

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