What can genetic information tell us?
Genetic information provides the basic instructions for everything in your body, from what you look like to how your muscles work. Most genetic changes are normal variants that do not cause or increase your risk for serious health problems. Some genetic changes impact your physical appearance, like height, but don’t have a health impact, and some genetic changes can result in serious health problems. Although your genes can not provide insight into all health conditions, scientists have found more than 6,000 genes that can cause genetic conditions.
Is there a difference between genetics and genomics?
Humans have approximately 20,000 genes. When we study one gene, or a select number of genes, we usually refer to this as genetics. When we study all genes, we refer to this as genomics. Visit the National Human Genome Institute for more information.
What is whole genome sequencing?
Also known as WGS, whole genome sequencing is the process of reading through all of your DNA that makes up your genome (all of the DNA across all 20,000 genes). The goal of WGS is to identify each of the 3 billion pairs of building blocks (technically referred to as “nucleotides”). Once the genome is fully sequenced, analysis of the genes can be used to identify if there are any changes in the genome that increase the risk for a genetic disorder. Watch Nurture’s How Genomic Sequencing Works video or read more from the National Library of Medicine.
What is the difference between next-generation, exome, and genome sequencing?
Next-generation sequencing describes the technology used to sequence a gene or an entire exome or genome. It replaced an older technique of sequencing called Sanger sequencing. Most labs today use next-generation sequencing.
Each gene is made up of alternating sections called exons and introns. Exons are the parts of a gene that are used to create the protein while introns are non-coding regions of the gene (however, they do include information that can be used to turn the gene on and off). Whole exome sequencing sequences all exons of all genes. Whole genome sequencing sequences all of the exons and introns. Whole genome sequencing provides the most in-depth analysis of a person’s genetic code.
What is included in Nurture’s screening panel?
There are thousands of genetic conditions that can present in childhood and adulthood. Some are treatable and some are not. Nurture’s panel will look for known genetic changes that cause treatable childhood-onset conditions. Nurture screens for more than 400 pediatric-onset rare conditions where identifying an increased risk would change the medical management of the child. Nurture includes blood disorders, neurologic conditions, metabolic conditions, conditions that impair immune response, endocrine conditions, and others. See our complete Gene List for details. Please note: Nurture is intended as a screening test for seemingly healthy infants and children. If you have a concern about your child’s health and you are seeking a genetic diagnosis, please contact us for more information.
Does Nurture screen for all childhood conditions?
Nurture does NOT screen for all possible genetic causes of childhood conditions.
Does Nurture screen for adult-onset conditions?
Nurture does NOT currently screen for adult-onset conditions. Nurture follows guidelines of the American Society of Human Genetics (ASHG), National Society of Genetic Counselors (NSGC), American College of Medical Genetics (ACMG), and Committee on Bioethics of the American Academy of Pediatrics(AAP), which all advise against genetic testing of children for adult-onset conditions.
If my child has an increased risk result, what does this mean?
Children with an increased risk result are at risk to develop symptoms of the condition and should seek follow-up care. Although we have selected genes that are associated with conditions that typically develop in childhood, there may be variability in the age of onset. In this case, our genetic counselors and medical specialists will help you understand what medical follow-up may be needed to better understand your child’s health risks. See our Gene List for details on what is included.
What is NOT included in Nurture’s screening panel?
Nurture does NOT screen for all possible genetic causes of childhood disease. Nurture does NOT screen for adult-onset conditions. Although our curated list of genetic conditions focuses on identifying childhood-onset, treatable conditions, some of the genes reported through our service are connected with a broad clinical spectrum that results in varying age of onset and variable symptoms. It is possible that you could receive a positive result, and upon further evaluation and workup, your child may not currently be at risk for early-onset symptoms. If you receive a positive result, our genetic counselors will help you understand what medical follow-up may be needed to better understand your child’s health risks. See our Gene List for details on what is included.
Who is Nurture’s screening panel for?
Nurture’s genomic sequencing service has been designed for healthy newborns and children. Most of the conditions included will manifest by age 3. However, some of the conditions included have onset later on in childhood. In addition, although Nurture will only analyze and report on 400+ genes, your child’s genome will be stored and available to you. Having access to your child’s full genome can be useful if your child develops any health concerns in the future.
How is Nurture’s service different from routine state newborn screening?
Newborn screening is a state-based public health program that checks babies for some serious conditions that are treatable when found early in life (typically within the first 1 to 2 months). A national committee reviews and advises on potential conditions to be screened for, but each state has the independent responsibility to decide which conditions will be included in their state’s newborn screening panel. States currently screen for anywhere between 31 and 77 conditions. Nurture is designed to be used in addition to routine state newborn screening.
Why would I need Nurture if I’ve already had carrier testing?
Carrier screening looks for genetic diseases where both parents must be carriers to have an affected child (autosomal recessive), or where mom may be a carrier and she has an increased risk to have an affected son (X-linked recessive). Carrier screening varies between testing labs and can range from just a few genetic conditions to hundreds. In most cases, these conditions are selected based on their frequency and severity, but not their treatability. Testing can take place prior to conception or during pregnancy.
Nurture’s service is for the baby and takes place after birth. While there is some overlap in the conditions that Nurture includes and on some carrier screening panels, Nurture’s comparison against a leading carrier screen with more than 400 genes found only 37% overlap. (Data on file.) See our Gene List for details on what’s included in Nurture’s screening panel or visit the American College of Obstetricians and Gynecologists for more information about how carrier screening works.
I know I’m a carrier of a genetic condition. Will Nurture tell me if my child is also a carrier for that condition?
Carrier status will only be reported in select conditions where carriers have been reported to develop symptoms. Please contact support@nurturegenomics.com for additional information.
Will Nurture’s reporting tell me if my child is a carrier of a genetic condition even if there is no increased risk for the condition?
Nurture will not report on carrier status. However, some of the reported conditions can be so mild in some individuals that the person remains asymptomatic. We can not determine disease severity based on genetic testing alone. This can happen particularly in females with an X-linked condition. Appropriate genetic counseling and medical evaluation are recommended in these situations.
Is Nurture only useful for children with a family history of genetic conditions?
No. Family history is always an important piece of risk assessment, but it isn’t everything. There are many types of genetic conditions that are passed through families unknowingly.
Some genetic conditions are passed through a family by silent (unaffected) carriers (people who have one genetic change for the condition). A child can only be affected by the condition if both parents are carriers. Because most families don’t know they are carrying one of these conditions, they are “hidden” and there is no family history.
In addition, some conditions, called X-linked conditions, typically appear in males but not females. In this group of conditions, it is possible that mom is an unaffected carrier and that there have been several generations of unaffected carrier females before an affected male is born in the family, making it appear as though there is no family history.
Finally, genetic conditions can also appear in a family due to a new genetic variant that arises in the egg or the sperm that created the child. These changes are spontaneous and are not linked to a family history of the condition.
How is Nurture different from other DNA testing services?
Nurture uses state-of-the-art technology to sequence your child’s genome and analyzes for 400+ medically actionable conditions. More importantly, Nurture is more than just a test. Nurture is a genomic-guided care service that includes genetic counselors, medical specialists, and care navigators to help you understand the results, make best use of your insights, and navigate next steps.
Who is Nurture’s laboratory partner for whole genome sequencing?
To facilitate our groundbreaking work, Nurture has partnered with the innovative team at the Broad Clinical Labs, a subsidiary of the Broad Institute of MIT and Harvard, a community of researchers founded in 2004 to fulfill the promise of genetic medicine. Broad Clinical Labs is a CLIA/CAP-accredited laboratory with a 30-year track record of delivering on transformative projects in the field of genomics. Learn more about CLIA and CAP certifications and why they matter.