{"id":58499,"date":"2013-03-12T21:06:41","date_gmt":"2013-03-13T01:06:41","guid":{"rendered":"https:\/\/rarediseases.org\/new-guidelines-on-testing-kids-dna-the-cliffs-notes-version\/"},"modified":"2013-03-12T21:06:41","modified_gmt":"2013-03-13T01:06:41","slug":"new-guidelines-on-testing-kids-dna-the-cliffs-notes-version","status":"publish","type":"post","link":"https:\/\/rarediseases.org\/es\/new-guidelines-on-testing-kids-dna-the-cliffs-notes-version\/","title":{"rendered":"New Guidelines on Testing Kids\u2019 DNA\u2013the Cliff\u2019s Notes Version"},"content":{"rendered":"

Exomes are big news. Sequencing of the protein-encoding part of the genome is increasingly solving medical mysteries in children. It\u00a0began with Nicholas Volker<\/a>\u00a0and his recovery from a devastating gastrointestinal disease with a stem cell transplant once his exome sequence revealed his problem. And my recent Medscape assignments reveal the trend: 7 of 12 kids\u2019 exomes\u00a0leading to diagnosis at Duke University<\/a>\u00a0(from May 10, 2012);\u00a0whole genomes of 5 infants from the neonatal intensive care unit<\/a>\u00a0at Children\u2019s Mercy Hospital and Clinics in Kansas City, Missouri (from October 3), in just 50 hours each, focusing on 600 single-gene diseases; and\u00a0300 patients at the Whole Genome Laboratory<\/a> at the Baylor College of Medicine, with 300 more waiting \u2014 85% of them kids (from November 9, 2012). \u00a0(You have to sign in to Medscape; it\u2019s free.)<\/p>\n

But wait.<\/p>\n

Before we all run out to get our exomes and\/or genomes sequenced, it might be a good idea to slow down and look at how to handle existing, single-gene tests \u2013 especially in children. A policy statement issued from the\u00a0American College of Medical Genetics and Genomics<\/a> (ACMG) and the\u00a0American Academy of Pediatrics<\/a>\u00a0(AAP) does just that, providing guidelines for health care providers while also succinctly and eloquently summarizing many genetic testing scenarios \u2013 some I hadn\u2019t thought of, and I\u2019ve been writing about genetic testing in my\u00a0human genetics textbook<\/a>\u00a0since 1994, a heady time when the genes behind Mendelian disorders were revealing themselves at a fast pace as the genome project got underway.<\/p>\n

You\u2019ll have to read the ACMG and AAP papers for the compelling arguments, but here\u2019s a Cliff\u2019s Notes version of the recommendations.<\/p>\n

SCENARIO:<\/strong>\u00a0<\/strong>A child has symptoms of a known genetic disease.<\/strong><\/p>\n

ACMG\/AAP: YES.<\/strong>\u00a0It\u2019s part of a normal diagnostic work-up.<\/p>\n

SCENARIO:<\/strong>\u00a0Newborn screening.<\/p>\n

YES.<\/strong>\u00a0\u201cThe AAP and ACMG support the mandatory offering of newborn screening for all children.\u201d<\/p>\n

SCENARIO:<\/strong>\u00a0Routine heterozygote carrier screening.<\/p>\n

IT DEPENDS.<\/strong>\u00a0\u201cThe AAP and the ACMG do not support routine carrier testing or screening for recessive conditions when carrier status has no medical relevance during minority.\u201d But it\u2019s ok if there are medical recommendations, such as for\u00a0sickle cell carriers<\/a>\u00a0to avoid high altitude and vigorous exercise.<\/p>\n

SCENARIO:<\/strong>\u00a0Carriers found in newborn screening \u2013 tell parents?<\/p>\n

YES<\/strong><\/p>\n

SCENARIO:<\/strong>\u00a0Carrier testing on pregnant teens.<\/p>\n

IT DEPENDS:<\/strong>\u00a0Health care providers should know the laws in their states about whether teens can make reproductive decisions without parental knowledge.<\/p>\n

SCENARIO:<\/strong>\u00a0Genetic screening (on a population for heightened risk) or testing (on certain individuals for diagnosis) done at school.<\/p>\n

NO<\/strong><\/p>\n

SCENARIO:<\/strong>\u00a0Predictive testing (Huntington disease) or predispositional testing (familial cancers) for adolescent- or adult-onset conditions.<\/p>\n

IT DEPENDS<\/strong>. \u201cThe AAP and the ACMG continue to support the traditional professional recommendation to defer genetic testing for late-onset conditions until adulthood,\u201d says the statement. But lead author Lainie Friedman Ross, MD, PhD, who has a long list of titles at the University of Chicago, says the view has softened somewhat since the Huntington disease gene was sequenced in 1993 and researchers worried about how relatives might react. It\u2019s turned out that people who would harm themselves tend not to seek testing. \u201cBut sometimes it may be in the best interest of the child to do predictive testing. Some families are so stressed out after living with ambiguity and not knowing, that it might be better to test,\u201d she says.<\/strong><\/p>\n

SCENARIO:<\/strong>\u00a0Teens wish to have a predictive test without their parents knowing.<\/p>\n

NO.<\/strong>\u00a0Results might tell the parents something they don\u2019t want to know.<\/p>\n

SCENARIO:<\/strong>\u00a0Testing kids for histocompatibility genes so they can donate tissue or organs.<\/p>\n

IT DEPENDS.<\/strong>\u00a0It\u2019s ok to benefit a family member. (See Jodi Picoult\u2019s\u00a0My Sister\u2019s Keeper<\/em><\/a>\u00a0<\/em>for a different view, albeit fictional.)<\/p>\n

SCENARIO:<\/strong>\u00a0Potential adoptive parents want the genetic scoop on a kid.<\/p>\n

IT DEPENDS.<\/strong>\u00a0The report waffles on whether prospective adoptive parents should have genetic info (pro: health; con: stigmatization) but okays adoptees getting such information about themselves as they reach adulthood. This scenario also arises for offspring of\u00a0assisted reproductive technologies<\/a>.<\/strong><\/p>\n

SCENARIO:<\/strong>\u00a0Parents do not want child to know genetic test results.<\/p>\n

IT DEPENDS.<\/strong>\u00a0For little kids, the health care provider should weigh not telling the child if there\u2019s no treatment, versus telling a child who\u2019ll suspect something is wrong anyway. For teens, the AAP and the ACMG \u201cbelieve that a request for the results of a genetic test by a mature adolescent should be given priority over his or her parents\u2019 requests to conceal information.\u201d<\/p>\n

SCENARIO:<\/strong>\u00a0Genetic testing reveals non-paternity.<\/p>\n

IT DEPENDS.<\/strong>\u00a0Human error, new mutations, and uniparental disomy (inheriting two copies of a gene from one parent, rather than one copy from each parent) can all lead to a conclusion that, as one prominent geneticist puts it, \u201cthe daddy is not really the daddy.\u201d Sayeth the ACMG and AAP: \u201cMismatches at a single locus or chromosomal region are insufficient to establish nonparentage.\u201d Test more genes.<\/p>\n

SCENARIO:<\/strong>\u00a0Direct-to-consumer genetic testing.<\/p>\n

NO!<\/strong>\u00a0\u201cThe AAP and the ACMG strongly discourage the use of DTC and home-kit genetic testing of children\u201d and furthermore call for consultation with a genetic counselor or medical geneticist both before and after testing \u2013 something not easy to find using \u201crecreational\u201d genetic testing services in their current form. That may change if their tests are granted FDA approval.<\/p>\n

\u201cPre-test counseling makes sure that the family is thinking of the best interests of the child. Post-test counseling deals with the fact that information from DTC companies is a moving target. Information that a company puts out today may change in 6 months and then there would be a need for health care providers to intervene, so why not do it from the beginning?\u201d Dr. Friedman Ross told me.<\/p>\n

She sums up all of the above scenarios in a single sentence: \u201cGenetic testing, like all testing in children, should focus on the best interest of the child.\u201d<\/p>\n

Well said, ACMG and AAP.<\/p>\n

This blog was published at Scientific American<\/a> on February 21 and at Genetic Linkage<\/a> on February 22.<\/p>\n

About Ricki Lewis<\/strong><\/p>\n

Ricki Lewis received her PhD in genetics from Indiana University. Her ninth book,\u00a0The Forever Fix: Gene Therapy and the Boy Who Saved It<\/a>, narrative nonfiction, was just published by St. Martin\u2019s Press. Most of her other books are college life science textbooks, including “Human Genetics: Concepts and Applications,” (10th edition, 2012) from McGraw-Hill Higher Education. Routledge Press published “Human Genetics: The Basics” in 2010.<\/p>\n","protected":false},"excerpt":{"rendered":"

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