CJG Blog

Center for Jewish Genetics blog

Newborn Screening and Carrier Screening

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Newborn-Carrier-Screenings

Carrier and newborn screenings both offer families information about the risk of a child having an early-onset, potentially life-limiting disease. However, carrier screening provides information much earlier in the family planning process. Ideally done prior to conception, carrier screening helps couples understand their risk of having a child with a serious genetic condition as well as available options. Newborn screening is for the baby – rather than the parents – and performed after birth. Read on to better understand the differences between carrier and newborn screenings and what Jewish and interfaith couples should know.

What is carrier screening?

Carrier screening is an essential step in planning for a healthy family. While everyone carries 6-8 changes in their genes, some genetic changes are more common among people of the same ethnic background. There are more than 19 recessive conditions that are more common among Ashkenazi Jews. Carriers are healthy individuals but if two people are carriers for the same condition, their future children may be at risk.

Ideally, couples should get carrier screening prior to pregnancy to understand their risks and all options. Carrier screening can also be done during early stages of pregnancy. Understanding the risk of having an affected child before birth gives couples more time to prepare.

Read more about carrier screening.

What is newborn screening?

Newborn screening is a public health program that can identify babies who have certain early-onset, potentially serious diseases. After a baby is born, and before the baby is discharged from the hospital, a blood sample is obtained through a heel prick. This blood sample is then analyzed to determine if a newborn is at high risk for certain genetic, metabolic, or congenital conditions. Babies with positive newborn screening results require additional diagnostic testing to determine if they are truly affected with a disease. Newborn screening also includes a hearing test and a pulse oximetry test to assess the risk for critical heart defects.

By identifying babies who have a serious illness, newborn screening allows for prompt follow up and early diagnosis. In many cases, early interventions and preventive measures can reduce symptoms, or even stop them before they begin. Ensuring that newborns with potentially life-threatening conditions get the treatment they need early on in life can have a major impact on improving long term health outcomes.

All babies born in the United States receive newborn screening. The programs are mandated by state law, and the conditions screened for vary slightly from state to state.

Do carrier screening and newborn screening test for the same conditions?

There is some overlap between diseases found on carrier screening panels and diseases that are part of newborn screening. Both include many recessive genetic conditions and metabolic disorders; however, there are some key differences. Some of the conditions on newborn screening, such as congenital heart disease, do not have a universal genetic cause and are not part of routine carrier screening. On the other hand, large expanded carrier screening panels may include a significantly higher number of conditions than newborn screening panels.  

Both newborn screening and carrier screening provide information about risk for genetic disorders, but do not provide an actual diagnosis. Newborn screening may detect that an infant has a disorder. Individuals with positive newborn screen results will be referred to a specialist for counseling and diagnostic testing to determine if the condition is truly present. Couples who have had negative carrier screening may already know they are at low risk for having a child with some of the newborn screening diseases before their baby is tested

What diseases are included as part of newborn screening?

Every state has a newborn screening program, although the conditions they screen for vary by state. Diseases included on newborn screening panels are early-onset and life-limiting, and some are potentially fatal. For diseases that are treatable, starting treatments early can impact the course of the disease. Newborn screening typically includes conditions from the following groups of disorders:

  • Amino acid disorders
  • Fatty acid oxidation disorders
  • Organic acid disorders
  • Lysosomal storage disorders
  • Other metabolic disorders, such as galactosemia and biotinidase deficiency
  • Hemoglobin disorders, such as sickle cell disease and thalassemia
  • Endocrine disorders (hypothyroidism and adrenal insufficiency)
  • Cystic fibrosis
  • Hearing loss
  • Critical congenital heart disease

Baby's First Test provides more information about these diseases. 

Newborn screening panels do not screen for all genetic diseases. Sometimes, healthcare providers recommend additional testing based on family history or other risk factors. It is important to make your doctor aware of any diseases you are concerned about your child inheriting in order to determine if they should be tested after birth.

For more information about newborn screening in your state, visit http://www.babysfirsttest.org/newborn-screening/states.

Individuals in Illinois can also find information about newborn screening on the Illinois Department of Public Health website

What else do Jewish and interfaith couples need to know about these screenings?

Diseases on newborn screening are not selected for individuals based on ethnic risk. Conditions on newborn screening affect infants of any background, and are not specific to one ethnicity. Some, but not all, Jewish genetic disorders are included on newborn screening and conditions vary depending on what state your child is born in.

Carrier screening can provide more information about a couple’s risk of having a child with a Jewish genetic disorder. Many screening programs for Jewish and interfaith couples, including the one offered by the Norton & Elaine Sarnoff Center for Jewish Genetics, screen for conditions that are more commonly found among Jews as well as pan-ethnic conditions that are found equally across people of all backgrounds. For more information about carrier screening, visit jewishgenetics.org/cjg/Carrier-Screening.aspxor contact the Sarnoff Center.

 

A Father’s Health is for the Family

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By Jason Rothstein, MPH

Rothsteins 

I have a confession to make: When my wife was pregnant with our first child, I didn’t get carrier screening. In fact, my wife only received a minimal amount of carrier screening, and not until she was already pregnant.

In my defense, we were already expecting when I took on the role of Director of the Sarnoff Center in January 2015. My background wasn’t genetics, but public health. And I was just beginning to understand this new-to-me subject area, and how it might apply to my own life. As I learned more, I worried – just a little – and then when our son was born in July (a little early, but no less perfect for it), I became a father.

Being a new dad with a new job threw my priorities into sharp relief: Excel at home, excel at work, meet all my responsibilities, and shed any remaining selfish instincts. It wasn’t about me anymore. (Maybe it never was, and I was just too dumb to realize it.)

Of course the second time around, we got full screening through the Sarnoff Center, and last January I became a father for the second time. Our daughter also came early, much earlier than our son, and spent 22 days in the NICU. But she’s home, and healthy, and (usually) happy.

Getting screened was an easy choice, not just because of my job, but because it was so obviously important to the health of our future children. But making other good health choices has not been so easy.

Men are notoriously bad at taking care of themselves. We visit the doctor too infrequently. We ignore health issues until they become unignorable. We try to be selfless by putting the priorities of work and family above those of our own health.

But that selflessness is selfishness in disguise. It’s an excuse for not making that appointment, for not listening to our bodies when they tell us something is wrong, for not showing weakness by asking for help when we need it. 

When you’re a father, you want to put your children and your spouse first. Your children and your spouse need you healthy, and they need you alive. Putting them first means taking half a day off work to get that checkup. It means not just hoping that pain will go away, but getting it checked out. It means knowing your family health history and your health risks so you can put just as much energy into staying healthy as you do into killing it at home and at work.

(And unfortunately for some of us, it may also mean finishing less of the uneaten ice cream left by our children.)

This Father’s Day, commit to your family’s health by investing time in your health. It’s the most selfless selfish thing you can do for the people you love. 

Changing Health Behavior Is Hard, Even for a Public Health Professional

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By Becca Bakal, MPH

Runner-350

Last week, I had a rude awakening at my annual checkup. My cholesterol was high — embarrassingly high. Since I’m a health educator, I know a thing or two about high cholesterol. When my doctor told me that having high cholesterol would increase my risk over time for health problems like heart disease and stroke, that wasn’t news to me. I knew that I could reduce my cholesterol and, therefore, my risk.

But I left the appointment and didn’t do anything to lower my cholesterol. I didn’t start exercising, I didn’t stop eating fried food, and I didn’t pick up a prescription for cholesterol-lowering medication. I have a degree in behavioral health, and yet I couldn’t bring myself to engage in healthy behaviors. I was overwhelmed and scared by the possibility of future illness. Instead of taking action, I walked around for a couple of days trying not to think about my cholesterol.

This is a pretty normal response to health risk. People feel helpless when confronted by the prospect of a future problem and they choose avoidance rather than risk-reducing action, thereby increasing their risk even further.

And then it hit me why, when I talk to people about Jewish genetic health, they often say that it is a "scary" topic. While there is no relationship between high cholesterol and Jewish genetics, the principle we’re talking about here is the same: understanding risk is hard and acting to reduce any risk can feel even harder. Some people don’t want to know about any future risk because they are worried that they will need to live their lives differently. Someone I interviewed for our needs assessment said it well: "If you don’t know about it, then you don’t need to change anything, because change is hard." 

When it comes to Jewish genetic health, genetic counseling and screenings exist to help people better understand their risk and - if necessary - make informed, personalized decisions about how to reduce it. Understanding risk is challenging, but it doesn’t have to be scary. Getting information and taking action should feel empowering. After I knew I had high cholesterol, I ultimately had the tools to live a healthier life and, after my gyro and Netflix, I went for a run and started eating less red meat. When it comes to Jewish genetic health, learning the facts can empower people to reduce risk and improve their health and the health of their families.

 

 

Jane the Virgin Tackles Breast Cancer

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By Sarah Goldberg

[Warning: Spoilers ahead for those not up-to-date with Jane the Virgin season 4]

In honor of Mother’s Day, I’m taking a moment to celebrate my favorite mother-daughter duo on TV: Jane and Xiomara of the Jane the Virgin (don’t worry, I also plan to celebrate the women in my own life!). A satirical take an overly dramatic telenovela, the CW’s hit show follows the life of a young woman who is accidentally artificially inseminated. Jane relies on her close-knit family – namely her mom, Xiomara, and her abuela – to advise her on childrearing, relationships, school and work while she simultaneously deals with kidnappers, murderers, blackmailers and other villains that soap opera dreams are made of. Though the show is perhaps best known for not taking itself too seriously, the most recent season tackled Xiomara’s breast cancer diagnosis – and the relationships between the family members – in a raw, relatable way that deserves acknowledgement. A few takeaways from the storyline:  

People handle information differently and the “right” choice isn’t the same for everyone

Xiomara, or Xo for short, understandably feels overwhelmed when she receives a diagnosis of stage three invasive lobular carcinoma. Her eyes glaze over as her doctor discusses treatment options, which include a lumpectomy, single mastectomy or preventative double mastectomy. She panics as she learns about drains and spacers and reconstruction options.  Meanwhile, Jane takes copious notes, asks questions of the doctors, and does her research. She feels strongly that Xo should have a double mastectomy. Although the cancer is only in one breast, a double mastectomy would reduce the chance of recurrence and Jane makes her opinion known. 

A genetic counselor or other medical professional can provide much-needed guidance 

Xo initially appeases Janes and agrees to have a double mastectomy (over dinner, as she asks her family to pass the chicken breasts, no less). Internally, Xiomara agonizes over the choices. How can she elect to remove healthy tissue from her unaffected breast, she wonders? Unfortunately, Xo doesn’t have a supportive doctor and there’s no genetic counselor, therapist or medical professional to provide guidance and help her make an informed decision.

Cancer is a family affair

As the family impatiently waits for Xo to choose a surgical approach, anxiety grows and tempers flare. A mother-daughter day at the spa ends with an outburst from Xiomara: “You and I have different relationships to our bodies, Jane, and I don’t know if I want to have elective surgery for your peace of mind.”

Cancer forces family members to re-examine their relationships. Jane, who has always operated as the caretaker, recognizes that ultimately the decision is not hers to make, and she needs to support her mom in the days ahead. Xiomara, who has always turned to Jane first, realizes there are some things better left to discuss with her new husband. (Rogelio, her high school sweetheart with whom she recently reunited and the father of Jane, though perhaps better known as a telenovela celebrity and for his outlandish Tweets.) The breast cancer is not hereditary, yet it affects the whole family.

Physical changes have emotional impact

Xiomara ultimately opts for a single mastectomy, a decision she comes to after weighing options carefully. Xo understands that a mastectomy will change her appearance, her body image that has long been a source of confidence, and her sexual function. She turns to her husband to discuss how this will impact their life together. Together they decide on a course of action and Xo undergoes surgery – but not without a “bye bye boob” party for them to pay tribute to Xo’s changing body.

The season ended with Xiomara navigating physical and emotional changes that followed her surgery and, of course, a dramatic cliffhanger. There’s a lot left to Xiomara’s story when Season 5 begins and I, for one, cannot wait to watch.

This Mother’s Day, honor the women in your life by sharing your own family stories and health information. While talking about breast cancer or other conditions that may affect the family isn’t easy, doing so can help you protect your health, your mom’s health, and the health of the family. The Norton & Elaine Sarnoff Center for Jewish Genetics offers tools to help you get started, and a genetic counselor is also available to help community members identify additional resources as needed.

 

 

 

 

 

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Affordable, Accessible Genetic Screening in Illinois

Our affordable, accessible carrier screening program uses advanced technology to provide comprehensive screening for Jewish and interfaith couples. Visit our Get Screened page to learn more and register.

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Do You Know What's In Your Genes?

What is the most valuable gift you can give to your family? The gift of good health! There are many health conditions that run in families. Knowing your family health history can alert you to the potential risk for a variety of genetic disorders . Talk to your relatives for warning signs and assess your risk for hereditary cancers.

Did you know: Ashkenazi Jews are 10 TIMES more likely to have BRCA mutations, which significantly increases lifetime risks for hereditary cancers, so what does this heightened risk mean for you? Click here to learn more .