Janice L. Berliner's Blog
September 28, 2020
The Importance of Knowing your Family History
Eating healthy, exercising, and not smoking is good for all of us. It’s probably hard to find many people who don’t know that. But what most people may not realize is that our family histories can be strong influences on disease risk. Common medical issues such as heart disease, arthritis, diabetes, and cancer can run in families. While we cannot change our genetics, knowing about them may help to reduce the risk of developing health problems. Of course everyone’s family history of disease is different. Features that may indicate a familial or hereditary condition include:
1) onset at an earlier age than expected
2) the same or related conditions in more than one close relative
3) combinations of related conditions within a family (such as breast and ovarian cancer)
4) disease that is present in a person who is of the opposite sex of who is generally affected, such as breast cancer in a man.
If your family has one or more of these features, the history may hold important clues about your risk for disease. It’s possible you might benefit from lifestyle changes and screening tests. There are direct-to-consumer (DTC) tests out there that can sometimes, in some circumstances, help you with this. But I would caution that there is not much data to support the tests they offer, at least not yet. Please see my DTC blog post for more information (janiceberliner.com). Of course, a genetics professional will be in a better position to determine whether you have an increased risk and what, if anything, can be done about it.
In November 2004, the U.S. Surgeon General and the Department of Health and Human Services launched a national public health campaign called the Family History Initiative (now called My Family Health Portrait, https://www.cdc.gov/genomics/famhisto...). It was announced in time to coincide with Thanksgiving, when families are often together, and encouraged families to learn more about their health histories.
If you think you have, or are at risk for, an inherited form of disease, genetic testing may help determine if you or your family members are at risk. Even with inherited forms of disease, you can take steps to reduce your risk, so it is worth knowing. Even if you don’t have a history of a particular health problem in your family, you may still wish to explore whether you could be at increased risk due to your lifestyle, personal medical history, or even family members who died young, before they had a chance to develop chronic conditions such as heart disease, stroke, diabetes, or cancer.
Bottom line: you cannot change your genes, but you can change unhealthy behaviors such as smoking, inactivity, and poor eating habits that may increase your risk for cancer, heart disease and other conditions. Just because it runs in your family does not mean you will succumb to it as well. Sometimes the best thing you can do is pursue screening tests, like mammograms and colonoscopies, that can detect disease at an early stage, when they are most treatable. Screening can also indicate risk factors, such as high cholesterol and hypertension, which are treatable. So at the Thanksgiving or Christmas table, be sure to ask questions. Talk to your parents, grandparents, siblings, children, aunts, uncles, nieces, nephews, and cousins. Ask them about any major medical conditions, causes of death, and age of disease onset or death. You can also look at death certificates and family medical records, if you can get your hands on them. Some families write this type of information in their family bibles, so you might check there as well. You may be surprised at what you’ll find!
To find a genetic counselor near you who can help, go to nsgc.org and click on “find a counselor.”
1) onset at an earlier age than expected
2) the same or related conditions in more than one close relative
3) combinations of related conditions within a family (such as breast and ovarian cancer)
4) disease that is present in a person who is of the opposite sex of who is generally affected, such as breast cancer in a man.
If your family has one or more of these features, the history may hold important clues about your risk for disease. It’s possible you might benefit from lifestyle changes and screening tests. There are direct-to-consumer (DTC) tests out there that can sometimes, in some circumstances, help you with this. But I would caution that there is not much data to support the tests they offer, at least not yet. Please see my DTC blog post for more information (janiceberliner.com). Of course, a genetics professional will be in a better position to determine whether you have an increased risk and what, if anything, can be done about it.
In November 2004, the U.S. Surgeon General and the Department of Health and Human Services launched a national public health campaign called the Family History Initiative (now called My Family Health Portrait, https://www.cdc.gov/genomics/famhisto...). It was announced in time to coincide with Thanksgiving, when families are often together, and encouraged families to learn more about their health histories.
If you think you have, or are at risk for, an inherited form of disease, genetic testing may help determine if you or your family members are at risk. Even with inherited forms of disease, you can take steps to reduce your risk, so it is worth knowing. Even if you don’t have a history of a particular health problem in your family, you may still wish to explore whether you could be at increased risk due to your lifestyle, personal medical history, or even family members who died young, before they had a chance to develop chronic conditions such as heart disease, stroke, diabetes, or cancer.
Bottom line: you cannot change your genes, but you can change unhealthy behaviors such as smoking, inactivity, and poor eating habits that may increase your risk for cancer, heart disease and other conditions. Just because it runs in your family does not mean you will succumb to it as well. Sometimes the best thing you can do is pursue screening tests, like mammograms and colonoscopies, that can detect disease at an early stage, when they are most treatable. Screening can also indicate risk factors, such as high cholesterol and hypertension, which are treatable. So at the Thanksgiving or Christmas table, be sure to ask questions. Talk to your parents, grandparents, siblings, children, aunts, uncles, nieces, nephews, and cousins. Ask them about any major medical conditions, causes of death, and age of disease onset or death. You can also look at death certificates and family medical records, if you can get your hands on them. Some families write this type of information in their family bibles, so you might check there as well. You may be surprised at what you’ll find!
To find a genetic counselor near you who can help, go to nsgc.org and click on “find a counselor.”
Newborn Screening
September is Newborn Screening Awareness Month Brooke's Promise
What it is
Newborn screening is the practice of testing all babies in their first days of life for certain disorders and conditions, mostly genetic, that without intervention may permanently impact them and their families. This testing is required in every state, because the earlier these disorders are recognized and treated, the better the outcome for the newborn. The Newborn Screening Program’s goal is to help affected babies live as long and normal of a life as possible.
How it works
A few drops of blood are taken from the newborn’s heel before he or she leaves the hospital, and are tested for as many as 50 genetic, endocrine, and metabolic disorders. New disorders are added to the panel as reliable testing is developed. A newborn with one of these disorders may look healthy at birth, but may have devastating loss of abilities without intervention; the earlier treatment is started, the better the outcome is for the newborn. Bear in mind that most newborns will not have one of these disorders and that, conversely, not every disorder is picked up with newborn screening. Thus, a negative test does not guarantee that the baby does not have some type of congenital anomaly or genetic condition. Genes are the basic units of heredity passed down from our mothers and fathers. For a child to have one of the disorders screened for in this manner, both the mother and father must pass down a mutated copy of the same gene.
What happens next
Health care providers are careful to ensure that newborns with abnormal test results receive appropriate confirmatory diagnoses and treatment. The ability to detect life-altering and life-threatening conditions very early in life has made it possible to virtually eliminate many of these conditions or drastically reduce or minimize their impacts on growth. Perhaps the most well-known example of this is phenylketonuria, or PKU. This is a rare disorder that prevents the body from properly breaking down the amino acid phenylalanine (Phe). Phe is found in many foods and in the artificial sweetener aspartame. If one has PKU and eats these foods, Phe builds up in the blood. This can permanently damage the nervous system and brain, causing a variety of health problems including seizures, psychiatric problems, and severe intellectual disability.
Relevant legislation
Right now, the Newborn Screening Reauthorization Act, which is set to expire at the end of September, is being evaluated by Congress, and may or may not be renewed for another five years. This bipartisan legislation allows for federal activities to assist states in expanding and improving their newborn screening programs, supporting education for parents on newborn screening, and ensuring quality and surveillance. If this bill becomes law, it will allow more states to be able to begin screening for neuromuscular conditions such as Pompe Disease and Spinal Muscular Atrophy (SMA), which are on the federally recommended list of conditions for which babies should be tested, called the Recommended Uniform Screening Panel (RUSP). Currently, some states screen for these disorders and some do not.
For more information, I am proud to send you to this wonderful video created by my former student, genetic counselor Allison Wood, MS, at https://www.youtube.com/watch?v=TVnp-... . For a novel revolving around a baby with a genetic disorder that can be detected with newborn screening, and how the family copes and triumphs, please see janiceberliner.com for information and details about my first book, Brooke’s Promise.
What it is
Newborn screening is the practice of testing all babies in their first days of life for certain disorders and conditions, mostly genetic, that without intervention may permanently impact them and their families. This testing is required in every state, because the earlier these disorders are recognized and treated, the better the outcome for the newborn. The Newborn Screening Program’s goal is to help affected babies live as long and normal of a life as possible.
How it works
A few drops of blood are taken from the newborn’s heel before he or she leaves the hospital, and are tested for as many as 50 genetic, endocrine, and metabolic disorders. New disorders are added to the panel as reliable testing is developed. A newborn with one of these disorders may look healthy at birth, but may have devastating loss of abilities without intervention; the earlier treatment is started, the better the outcome is for the newborn. Bear in mind that most newborns will not have one of these disorders and that, conversely, not every disorder is picked up with newborn screening. Thus, a negative test does not guarantee that the baby does not have some type of congenital anomaly or genetic condition. Genes are the basic units of heredity passed down from our mothers and fathers. For a child to have one of the disorders screened for in this manner, both the mother and father must pass down a mutated copy of the same gene.
What happens next
Health care providers are careful to ensure that newborns with abnormal test results receive appropriate confirmatory diagnoses and treatment. The ability to detect life-altering and life-threatening conditions very early in life has made it possible to virtually eliminate many of these conditions or drastically reduce or minimize their impacts on growth. Perhaps the most well-known example of this is phenylketonuria, or PKU. This is a rare disorder that prevents the body from properly breaking down the amino acid phenylalanine (Phe). Phe is found in many foods and in the artificial sweetener aspartame. If one has PKU and eats these foods, Phe builds up in the blood. This can permanently damage the nervous system and brain, causing a variety of health problems including seizures, psychiatric problems, and severe intellectual disability.
Relevant legislation
Right now, the Newborn Screening Reauthorization Act, which is set to expire at the end of September, is being evaluated by Congress, and may or may not be renewed for another five years. This bipartisan legislation allows for federal activities to assist states in expanding and improving their newborn screening programs, supporting education for parents on newborn screening, and ensuring quality and surveillance. If this bill becomes law, it will allow more states to be able to begin screening for neuromuscular conditions such as Pompe Disease and Spinal Muscular Atrophy (SMA), which are on the federally recommended list of conditions for which babies should be tested, called the Recommended Uniform Screening Panel (RUSP). Currently, some states screen for these disorders and some do not.
For more information, I am proud to send you to this wonderful video created by my former student, genetic counselor Allison Wood, MS, at https://www.youtube.com/watch?v=TVnp-... . For a novel revolving around a baby with a genetic disorder that can be detected with newborn screening, and how the family copes and triumphs, please see janiceberliner.com for information and details about my first book, Brooke’s Promise.
